Publications by authors named "Maryam Rezazadeh"

49 Publications

Stress Granules and Neurodegenerative Disorders: A Scoping Review.

Front Aging Neurosci 2021 23;13:650740. Epub 2021 Jun 23.

Molecular Medicine Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

Cytoplasmic ribonucleoproteins called stress granules (SGs) are considered as one of the main cellular solutions against stress. Their temporary presence ends with stress relief. Any factor such as chronic stress or mutations in the structure of the components of SGs that lead to their permanent presence can affect their interactions with pathological aggregations and increase the degenerative effects. SGs involved in RNA mechanisms are important factors in the pathophysiology of neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), frontotemporal degeneration (FTD), and Alzheimer's diseases (AD). Although many studies have been performed in the field of SGs and neurodegenerative disorders, so far, no systematic studies have been executed in this field. The purpose of this study is to provide a comprehensive perspective of all studies about the role of SGs in the pathogenesis of neurodegenerative disorders with a focus on the protein ingredients of these granules. This scoping review is based on a six-stage methodology structure and the PRISMA guideline. A systematic search of seven databases for qualified articles was conducted until December 2020. Publications were screened independently by two reviewers and quantitative and qualitative analysis was performed on the extracted data. Bioinformatics analysis was used to plot the network and predict interprotein interactions. In addition, GO analysis was performed. A total of 48 articles were identified that comply the inclusion criteria. Most studies on neurodegenerative diseases have been conducted on ALS, AD, and FTD using human post mortem tissues. Human derived cell line studies have been used only in ALS. A total 29 genes of protein components of SGs have been studied, the most important of which are TDP-43, TIA-1, PABP-1. Bioinformatics studies have predicted 15 proteins to interact with the protein components of SGs, which may be the constituents of SGs. Understanding the interactions between SGs and pathological aggregations in neurodegenerative diseases can provide new targets for treatment of these disorders.
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http://dx.doi.org/10.3389/fnagi.2021.650740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261063PMC
June 2021

Clinical Efficacy of Aloe Vera Toothpaste on Periodontal Parameters of Patients with Gingivitis-A Randomized, Controlled, Single-masked Clinical Trial.

J Contemp Dent Pract 2021 Mar 1;22(3):242-247. Epub 2021 Mar 1.

Private Practice (General Dentist).

Aim And Objective: This study aims to assess the effects of aloe vera toothpaste on dental plaques and gingivitis.

Materials And Methods: This single-center, single-blind, randomized, two-period crossover study was performed on 20 dental students with a mean age of 24.5 ± 4 years with gingivitis. Subjects were randomly assigned to two groups ( = 10). After 14 days of trial period, plaque index (PI) and gingival index (GI) were assessed for each group. The first group used aloe vera toothpaste for 30 days and then their PI and GI were recorded. A 2-week washout period was allowed and then the subjects used fluoride toothpaste for the next 30 days and underwent PI and GI assessment again. This order was reversed in group 2.

Results: Toothpaste-containing aloe vera showed no significant improvement in the GI and PI scores as compared with a fluoride-containing dentifrice. PI was 2.14 ± 1.3 at baseline and 1.84 ± 1.02 in 30 days ( <0.098). GI was 0.62 ± 0.74 at baseline and 0.25 ± 0.46 at 30 days ( <0.068). During the trial, no side effects were seen due to the use of aloe vera or fluoride toothpaste.

Conclusion: The effect of aloe vera toothpaste on PI and GI was similar to that of fluoride toothpaste and it seems that this toothpaste can be used as an alternative to a chemical toothpaste.

Clinical Significance: The use of an aloe vera toothpaste in improving the progression of gingivitis can be evaluated.
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March 2021

STRs: Ancient Architectures of the Genome beyond the Sequence.

J Mol Neurosci 2021 May 30. Epub 2021 May 30.

Division of Medical Genetics, Tabriz Childrens Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.

Short tandem repeats (STRs) are commonly defined as short runs of repetitive nucleotides, consisting of tandemly repeating 2-6- bp motif units, which are ubiquitously distributed throughout genomes. Functional STRs are polymorphic in the population, and their variations influence gene expression, which subsequently may result in pathogenic phenotypes. To understand STR phenotypic effects and their functional roles, we describe four different mutational mechanisms including the unequal crossing-over model, gene conversion, retrotransposition mechanism and replication slippage. Due to the multi-allelic nature, small length, abundance, high variability, codominant inheritance, nearly neutral evolution, extensive genome coverage and simple assaying of STRs, these markers are widely used in various types of biological research, including population genetics studies, genome mapping, molecular epidemiology, paternity analysis and gene flow studies. In this review, we focus on the current knowledge regarding STR genomic distribution, function, mutation and applications.
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http://dx.doi.org/10.1007/s12031-021-01850-6DOI Listing
May 2021

DOCK8-related Immunodeficiency Syndrome (DIDS): Report of Novel Mutations in Iranian Patients.

J Mol Neurosci 2021 May 4. Epub 2021 May 4.

Division of Medical Genetics, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.

DOCK8 immunodeficiency syndrome (DIDS) is a rare autosomal recessive (AR) disorder characterized by elevated serum IgE levels, eosinophilia, recurrent cutaneous infections, severe eczema, and sinopulmonary and gastrointestinal infections. This syndrome is a multisystem disease that is associated with both immune deficiency and neurological complications. In this study, we describe the clinical characteristics of two Iranian patients with DOCK8 deficiency and propose possible mechanisms for this condition. By using whole exome sequencing (WES), we identified two novel mutations, namely c.3233_3234del AG (p.Q1078fs) in exon 6 and a large deletion with 94 kb (c.405-3231 deletion, p.K135fs), in these two patients. These variations are confirmed with Sanger sequencing and CGH array. Subsequent co-segregation analysis is performed to identify inheritance patterns. Both patients were homozygote and their parents were heterozygote for the variations. For further investigation, prediction tools were applied to identify the pathogenicity of the variations and also for modeling the truncated proteins. The patients did not show neurological abnormalities associated with a deficiency of the N terminal region of DOCK8. The absence of neurological complications in the first patient is justifiable due to the maintenance of the proline-rich region in DOCK8, but for the second patient with expanded deletion which is almost like null DOCK8 protein, it is not presumable, pointing to the fact that the C terminal region of the protein might have functions in the proliferation and migration neurons in the peripheral nervous system. Alternatively, it is possible that neurological abnormalities follow an age-dependent pattern, leading to the appearance of related symptoms later in life. Further multiple functional studies are needed to model different identified variants in animal models to confirm our results and suggest possible mechanisms associated with DOCK8 deficiency in this study.
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http://dx.doi.org/10.1007/s12031-021-01843-5DOI Listing
May 2021

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.

Orphanet J Rare Dis 2021 01 28;16(1):51. Epub 2021 Jan 28.

Department of Medical Genetics, Tabriz University of Medical Sciences, Tabriz, Iran.

Background: FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, inguinal hernias, hollow viscus diverticula and pyloric stenosis. This type of CL follows mostly autosomal recessive (AR) and less commonly autosomal dominant patterns of inheritance.

Results: In this study, we detected a novel homozygous missense variant in exon 6 of FBLN5 gene (c.G544C, p.A182P) by using whole exome sequencing in a consanguineous Iranian family with two affected members. Our twin patients showed some of the clinical manifestation of FBLN5-related CL but they did not present pulmonary complications, gastrointestinal and genitourinary abnormalities. The notable thing about this monozygotic twin sisters is that only one of them showed ventricular septal defect, suggesting that this type of CL has intrafamilial variability. Co-segregation analysis showed the patients' parents and relatives were heterozygous for detected variation suggesting AR form of the CL. In silico prediction tools showed that this mutation is pathogenic and 3D modeling of the normal and mutant protein revealed relative structural alteration of fibulin-5 suggesting that the A182P can contribute to the CL phenotype via the combined effect of lack of protein function and partly misfolding-associated toxicity.

Conclusion: We underlined the probable roles and functions of the involved domain of fibulin-5 and proposed some possible mechanisms involved in AR form of FBLN5-related CL. However, further functional studies and subsequent clinical and molecular investigations are needed to confirm our findings.
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http://dx.doi.org/10.1186/s13023-021-01696-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845118PMC
January 2021

Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review.

Biomed Pharmacother 2020 Nov 29;131:110793. Epub 2020 Sep 29.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is a genetic neurological condition characterized by extreme cerebellar atrophy. PEHO-Like syndrome is comparable to PEHO syndrome, with the exception that there is no typical neuro-radiologic or neuro-ophthalmic findings. PEHO spectrum disorders are highly clinically and genetically heterogeneous, and this has challenged their diagnosis. This scoping review aims to summarize and discuss common clinical and genetic features of these syndromes to help future researches. This study was performed according to a six-stage methodology structure and PRISMA guideline. A systematic search of seven databases was performed to find eligible publications prior to June 2020. Articles screening and data extraction were independently performed by two reviewers and quantitative and qualitative analyses were conducted. Thirty-eight articles were identified that fulfill the inclusion criteria. Cerebellar atrophy was the main clinical difference between the two groups but data on optic atrophy and infantile spasms/hypsarrhythmia were not consistent with the previously essential diagnostic criteria. Genetic analysis was performed in several studies, leading to identification of pathogenic variants in different genes that caused these conditions due to different mechanisms. Genetic studies could revolutionize the diagnosis process and our understanding of the etiology of this challenging group of patients by providing targeted sequencing panels and exome- or genome-scale studies in the future.
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http://dx.doi.org/10.1016/j.biopha.2020.110793DOI Listing
November 2020

GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.

Metab Brain Dis 2020 10 5;35(7):1127-1134. Epub 2020 Jun 5.

Division of Medical Genetics, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.

Pompe disease (PD) is a rare autosomal recessive multi-systemic lysosomal storage disorder, caused by mutations in the acid alpha-glucosidase (GAA) gene located on 17q25.2-q25.3. It is one of about 50 rare genetic diseases categorized as lysosomal storage disorders. This disease is characterized by a range of different symptoms related to acid alpha-glucosidase deficiency. Mutation recognition in the GAA gene can be very significant for purposes such as therapeutic interference, early diagnosis and genotype-phenotype relationship. In the current study, peripheral blood samples were gathered from patients with PD and healthy members of three families. Enzymatic activity of GAA was checked. Then, mutation detection was performed by polymerase chain reaction followed by direct sequencing of all exons in samples with decreased enzyme activity. The identified mutations were investigated using bioinformatics tools to predict possible effects on the protein product and also to compare the mutated sequence with near species. Three novel mutations (c.1966-1968delGAG, c.2011-2012delAT and c.1475-1481dupACCCCAC) were identified in the GAA gene. Assessment of the effects of these mutations on protein structure and function showed the possibility of harmful effects and their significant alterations in the protein structure. The three novel GAA gene mutations detected in this study expand the information about the molecular genetics of PD and can be used to helpdiagnosis and genetic counseling of affected families.
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http://dx.doi.org/10.1007/s11011-020-00586-3DOI Listing
October 2020

RUNX1 variant as a genetic predisposition factor for acute myeloid leukemia.

Exp Mol Pathol 2020 08 12;115:104440. Epub 2020 Apr 12.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran; Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Acute myeloid leukemia (AML) is the most common hematological malignancy among adults and is characterized by accumulation of immature myeloid cells. Different genetic factors have role in the occurrence of AML. Among different proteins, RUNX1 and BAALC are involved in the development AML. It has been shown that BAALC overexpression is a factor that indicate shorter disease free survival in a subset of AML patients. RUNX1 has been implicated in the development of breast, prostate, lung, and skin cancers. The aim of this study is determination of the prevalence of common polymorphisms in BAALC (rs6999622 and rs62527607) and RUNX1 (rs13051066 and rs61750222) in AML patients compared with healthy subjects. A total of 100 AML patients and 100 healthy control subjects were included in our study. Genomic DNA was isolated from peripheral blood and the polymorphisms were genotyped by applying ARMS and PCR-RFLP methods. Finally, data was analyzed using SPPSS software. Our results demonstrate a significant association between the RUNX1 rs13051066 and AML in the co-dominant (odd ratio = 6.66, 95% Cl = 1.85-25, p = .006) and dominant (GT + TT versus GG: odd ratio = 6.15, 95% CI = 1.73-21.87, p = .002) models. The RUNX1 rs13051066 polymorphism is associated with risk of AML in Iranian population. Future studies should consider larger sample size for assessment of RUNX1 gene polymorphisms, and employ cytogenetic and molecular analyses in AML patients from different ethnic origins.
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http://dx.doi.org/10.1016/j.yexmp.2020.104440DOI Listing
August 2020

Dual biomarkers long non-coding RNA GAS5 and its target, NR3C1, contribute to acute myeloid leukemia.

Exp Mol Pathol 2020 06 4;114:104399. Epub 2020 Feb 4.

Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Acute myeloid leukemia (AML) is a complex hematological neoplasm with poor prognosis. At present, overwhelming evidence indicates that different genetic abnormalities are relevant to the pathogenesis of AML. Nevertheless, its exact molecular mechanism is still unknown. Recently, it was reported that lncRNAs play crucial roles in tumorigenesis. But, their role in the molecular pathogenesis of AML has not been extensively explored. GAS5, one of the earliest known lncRNAs, has an essential role in the formation and progression of multiple human cancers. It was recently demonstrated that GAS5 acts as a riborepressor of the Glucocorticoid receptor) GR) and abnormal levels of GAS5 may alter response of hematopoietic cells to glucocorticoids. GAS5 can have interaction with the GR that encoded by NR3C1 gene and inhibit its transcriptional activity. To test whether the genetic variants can be associated with AML risk, we genotyped rs55829688 (T > C) polymorphism in GAS5 and three NR3C1 SNPs namely rs6195, rs41423247 and rs6189/rs6190 in a population of 100 Iranian AML patients and 100 healthy subjects. The analysis of the data showed the frequency of alleles and genotypes of rs55829688 and rs6189/rs6190 polymorphisms did not differ between patients and healthy subjects. But, rs41423247 and rs6195 demonstrated a significant correlation with AML risk. The rs6195 was associated with higher AML susceptibility in the co-dominant (OR = 4.58, 95% CI = 2.11-9.981, P < .0001), dominant (OR = 4.55, 95% CI = 2.155-9.613, P < .0001), and over-dominant (OR = 4.43, 95% CI = 2.042-9.621, P < .0001) models. Also, the rs41423247 polymorphism was associated with higher risk of AML in co-dominant (OR = 2.07, 95% CI = 1.171-4.242, P = .012) and dominant (OR = 2.47, 95% CI = 1.192-5.142, P = .010) models. Furthermore, haplotype analysis (rs41423247, rs6189.rs6190, rs6195, and rs55829688 respectively) demonstrated that GGAT, CGGT, and GGGT haplotypes were associated with higher risk of AML in the studied population (p-values = .007, 0.042 and 0.044, respectively). The present study reveals a possible role for NR3C1 in the pathogenesis of AML.
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http://dx.doi.org/10.1016/j.yexmp.2020.104399DOI Listing
June 2020

Role of and genes polymorphisms in multiple sclerosis.

Int J Neurosci 2020 Apr 26;130(4):407-412. Epub 2019 Nov 26.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Multiple sclerosis (MS) as a progressive chronic disease of the central nervous system (CNS) is characterized by demyelination and axonal loss. Results of genetic studies and clinical trials have proved a key role for the immune system in the pathogenesis of MS. Glucocorticoids (GR) are regarded as potent therapeutic compounds for autoimmune and inflammatory diseases which act through their receptors encoded by () gene. Meanwhile, the long non-coding RNA (lncRNA) () interacts with GR through binding to the DNA-binding domain (DBD) region and reduces GR transcriptional activity. The purpose of our study was to evaluate the association between MS and polymorphisms within (rs6189/6190, rs56149945, rs41423247) and (rs55829688) genes in 300 relapsing-remitting MS patients and 300 healthy subjects. We demonstrated significant differences in distribution of genotype, allele and haplotype frequencies of rs6189, rs41423247 and rs55829688 between the study groups. Our data may suggest that rs6189, rs41423247 and rs55829688 are associated with the increased risk of MS development. Future studies are needed to verify our results in larger sample sizes and elaborate the underlying mechanisms for contribution of these variants in MS disease.
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http://dx.doi.org/10.1080/00207454.2019.1694019DOI Listing
April 2020

Down-regulation of ERMN expression in relapsing remitting multiple sclerosis.

Metab Brain Dis 2019 10 23;34(5):1261-1266. Epub 2019 May 23.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Multiple Sclerosis (MS) is a chronic inflammatory disease causing demyelination and neurodegeneration in the central nervous system (CNS). Although the exact etiology of MS is still unclear, both genetic and environmental elements are regarded as causative factors. Environmental factors can induce a cascade of events in immune system leading to neuronal death and nerve demyelination. This paper aims to compare the peripheral transcript levels of Ermin (ERMN) (a gene with putative role in cytoskeletal rearrangements during myelinogenesis) and Listerin E3 Ubiquitin Protein Ligase 1 (LTN1) (a gene with functions in regulating innate immune system) between relapsing-remitting MS (RR-MS) patients and healthy controls. The results showed a significant decrease in ERMN expression (p = 0.022); whereas, no significant difference was detected in LTN1 expression between two groups (p = 0.935). The reduction in ERMN expression in leukocytes could be the cause of demyelinating process in RR-MS patients. Current findings might also have practical importance in prognosis and targeted therapies.
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http://dx.doi.org/10.1007/s11011-019-00429-wDOI Listing
October 2019

First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the Gene.

J Pediatr Genet 2019 Jun 26;8(2):73-80. Epub 2018 Oct 26.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Congenital short bowel syndrome (CSBS) is a rare congenital neonatal disorder. CSBS results from intestinal impairment during embryogenesis. Mutated ( ) and genes are involved in the cause of CSBS. In this study, due to our misdiagnosis, we had to perform whole exome sequencing on the patient, and also we implemented cosegregation analysis on his parents with consanguineous marriage and also parents' mothers. We identified a homozygous loss of function mutation in the gene in exon 5 (c.664C > T, p.R222X). Also, both parents and grandmothers of the proband were heterozygous for this mutation. Loss of function mutation in causes CSBS, leading to impaired intestinal development.
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http://dx.doi.org/10.1055/s-0038-1675339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499612PMC
June 2019

The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.

Neuromolecular Med 2019 06 27;21(2):160-169. Epub 2019 Mar 27.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders caused by mutations in fourteen distinct ceroid lipofuscinoses, neuronal (CLN) genes described with various severe symptoms such as seizures, visual failure, motor decline, and progressive cognitive deterioration. The current research represents novel CLN5 (c.741G > A) and CLN8 (c.565delT) mutations in two different Iranian families with late-infantile NCL (LINCL) and their relatives by using whole-exome sequencing (WES). The first family had a 10-year-old male with consanguineous parents and severe NCL symptoms, including motor clumsiness, telangiectasia, and cerebellar atrophy. The second family with a child who suffered from nystagmus rotation, motor difficulties, and seizure was a 5-year-old male with consanguineous parent. WES of probands 1 and 2 revealed homozygotic mutations in exon 4 of CLN5 (c.741G > A, p.W247X) and deletion in exon 3 (c.565delT, p.F189fs) of CLN8, respectively. Both patients' parents were heterozygous for these alterations. In concordance with previous studies, our results indicate that pathogenic mutations in CLN genes, especially CLN5 and 8, are a main cause of LINCL; these results also suggest that LINCL is not a regionally or nationally dependent disorder and can occur in any ethnic group despite the fact that some populations may be more at risk. Consequently, CLN gene screening for patients with typical signs of LINCL is recommended.
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http://dx.doi.org/10.1007/s12017-019-08529-7DOI Listing
June 2019

Genetic discoveries and advances in late-onset Alzheimer's disease.

J Cell Physiol 2019 08 20;234(10):16873-16884. Epub 2019 Feb 20.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Alzheimer's disease (AD) is a heterogeneous disorder with multiple patterns of clinical manifestations. Recently, due to the advance of linkage studies, next-generation sequencing and genome-wide association studies, a large number of putative risk genes for AD have been identified using acquired genome mega data. The genetic association between three causal genes, including amyloid precursor protein, presenilin1, and presenilin2 in early-onset AD (EOAD), was discovered over the past few decades. These discoveries showed that there should be additional genetic risk factors for both EOAD and late-onset AD (LOAD) to help fully explain the leading molecular mechanisms in a single pathophysiological entity. This study reviews the clinical features and genetic etiology of LOAD and discusses a variety of AD-mediated genes that are involved in cholesterol and lipid metabolism, endocytosis, and immune response according to their mutations for more efficient selection of functional candidate genes for LOAD. New mechanisms and pathways have been identified as a result.
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http://dx.doi.org/10.1002/jcp.28372DOI Listing
August 2019

Assessment of expression of RELN signaling pathway in multiple sclerosis patients.

Immunobiology 2019 05 12;224(3):402-407. Epub 2019 Feb 12.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran; Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system. Nearly 85% of MS patients are recognized with relapsing-remitting MS (RRMS), a typical clinical course of disease which is distinguished by several episodes of relapses, separated by remissions of neurological impairment. Failure of repair mechanisms is a main factor in progression of neurological dysfunction in MS. Several lines of evidence suggest that Reelin (RELN) signaling pathway can contribute in the regulation of repair mechanisms in MS patients. In the present study, we assessed expression levels of RELN and Disabled-1 (DAB1), two key genes in RELN signaling pathway, in peripheral blood of 50 RRMS patients and 50 matched healthy subjects. RELN was significantly down-regulated in total MS patients, and total female patients compared with the matched controls. However, no statistically significant difference was found in DAB1 mRNA expression between MS patients and controls. Furthermore, considerable correlations were detected between expression levels of RELN and DAB1 in the patients group. There were no significant correlations between expression levels of genes and EDSS, disease duration or age at onset. Our study provides evidences for the role of RELN signaling pathway in the pathogenesis of MS. Further studies are required to clarify the exact clinical significance of this pathway in MS patients.
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http://dx.doi.org/10.1016/j.imbio.2019.02.007DOI Listing
May 2019

Miniaturized sample preparation methods for saliva analysis.

Bioanalysis 2019 Jan 12;11(2):119-148. Epub 2018 Dec 12.

Department of Chemistry, Faculty of Science, Qom University, Qom, Iran.

Saliva, as the first body fluid encountering with the exogenous materials, has good correlation with blood and plays an important role in bioanalysis. However, saliva has not been studied as much as the other biological fluids mainly due to restricted access to its large volumes. In recent years, there is a growing interest for saliva analysis owing to the emergence of miniaturized sample preparation methods. The purpose of this paper is to review all microextraction methods and their principles of operation. In the following, we examine the methods used to analyze saliva up to now and discuss the potential of the other microextraction methods for saliva analysis to encourage research groups for more focus on this important subject area.
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http://dx.doi.org/10.4155/bio-2018-0160DOI Listing
January 2019

Magnetic nanocomposite of chitosan-Schiff base grafted graphene oxide for lead analysis in whole blood.

Anal Biochem 2018 07 18;553:28-37. Epub 2018 May 18.

Analytical Chemistry Research Laboratory, Mobin Shimi Azma Company, Tehran, Iran.

A new Schiff base grafted graphene oxide-magnetic chitosan was utilized as a novel sorbent for extraction and quantification of lead ion in blood samples via dispersive magnetic solid phase extraction. The prepared nanocomposite sorbent was characterized by SEM, TEM, FT-IR, XRD, VSM and EDX and the quantification analysis was performed by microsampling flame atomic absorption spectrometry. The important parameters on the extraction efficiency were thoroughly optimized by means of experimental design. Under the optimized conditions, an aliquot of 50 mL of sample (pH 6.3) was extracted utilizing 60 mg of magnetic nanoparticles during 30 min. The sorbent was afterward desorbed using 1.0 mL of 0.8 mol L HNO under fierce vortex for 6 min. A preconcentration factor of 20 and an absolute recovery of 40% were provided by the proposed method. The limits of detection (3S/N) and quantification (10 S/N) were 0.06 ng mL and 2.0 ng mL, respectively. An excellent linearity was achieved within the range of (10-800) ng mL and the regression coefficient was 0.9903. The intra- and inter-day RSDs% were found to be 1.8% and 7.0%, respectively. Furthermore, the method was applied for analysis of blood samples and good accuracies within the range of 97%-108% were obtained.
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http://dx.doi.org/10.1016/j.ab.2018.05.018DOI Listing
July 2018

Association Study of ANRIL Genetic Variants and Multiple Sclerosis.

J Mol Neurosci 2018 May 30;65(1):54-59. Epub 2018 Apr 30.

Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Multiple sclerosis (MS) is an autoimmune disorder of central nervous system with several genetic and environmental risk factors. Genes with regulatory roles on immune system have been implicated in its pathogenesis. Recently, long non-coding RNAs (lncRNAs) have been demonstrated to control some aspects of immune response. Among them is antisense non-coding RNA in the INK4 locus (ANRIL) whose involvement in NF-κB signaling pathway has been highlighted. In the current study, we evaluated the association between rs1333045, rs4977574, rs1333048, and rs10757278 variants of ANRIL and MS risk in a population of 410 Iranian MS patients and 410 healthy subjects. There was no significant difference in allele and genotype frequencies between MS patients and healthy subjects. However, haplotype analysis (rs1333045, rs1333048, rs4977574, and rs10757278 respectively) demonstrated protective effect of CCGG and TAAA haplotypes against MS (P values of 0.043 and 0.0026 respectively). In addition, TAGG and CCGA haplotypes were significantly associated with MS risk in the studied population (P values of 0.0065 and 0.024 respectively). The present study reveals a possible role for ANRIL in the pathogenesis of MS.
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http://dx.doi.org/10.1007/s12031-018-1069-3DOI Listing
May 2018

On-chip pulsed electromembrane extraction as a new concept for analysis of biological fluids in a small device.

J Chromatogr A 2017 Dec 23;1527:1-9. Epub 2017 Oct 23.

Department of Chemistry, Tarbiat Modares University, P. O. Box 14115-175, Tehran, Iran.

In the present work, an on-chip pulsed electromembrane extraction technique followed by HPLC-UV was developed for the analysis of codeine, naloxone and naltrexone as model analytes in biological fluids. The chip consisted of two channels for the introduction of the donor and acceptor phases. The channels were carved in two poly (methyl methacrylate) plates and a porous polypropylene membrane, which is impregnated by an organic solvent separating the two channels. Two platinum electrodes were mounted on the bottom of these channels and a pulsed electrical voltage was applied as an electrical driving force for the migration of ionized analytes from the sample solution through the porous sheet membrane into the acceptor phase. Using the pulsed voltage provided effective and reproducible extractions and could successfully overcome the disadvantages of applying constant voltages. Effective parameters of on-chip pulsed electromembrane extraction such as chemical composition of the organic solvent, applied voltage, pH of the donor and acceptor phases, flow rate and pulse duration were optimized using one-variable-at-a-time method. Under the optimized conditions, the model analytes were effectively extracted from different matrices and good linearity in the range of 10.0-500.0μgL was achieved for calibration curves with coefficients of determinations (R) higher than 0.997. Extraction recoveries and%RSDs were obtained in the ranges of 28.6-32.9% and 2.15-3.8, respectively. Also, limits of detection were obtained in the ranges of 5-10μgL and 2-5μgL in plasma and urine samples, respectively.
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http://dx.doi.org/10.1016/j.chroma.2017.10.049DOI Listing
December 2017

Plasmid-Mediated Quinolone-Resistance () Genes in Clinical Isolates of Collected from Several Hospitals of Qazvin and Zanjan Provinces, Iran.

Osong Public Health Res Perspect 2016 Oct 24;7(5):307-312. Epub 2016 Aug 24.

Medical Microbiology Research Center, Qazvin University of Medical Sciences, Qazvin, Iran.

Objectives: is regarded as the most important etiological agent of urinary tract infections. Fluoroquinolones are routinely used in the treatment of these infections; however, in recent years, a growing rate of resistance to these drugs has been reported globally. The aims of this study were to detect plasmid-mediated , , and genes among the quinolone-nonsusceptible isolates and to investigate their clonal relatedness in Qazvin and Zanjan Provinces, Iran.

Methods: A total of 200 clinical isolates of were collected from hospitalized patients. The bacterial isolates were identified through standard laboratory protocols and further confirmed using API 20E test strips. Antimicrobial susceptibility was determined by the standard disk diffusion method. Polymerase chain reaction (PCR) and sequencing were used for detecting , , and genes and the clonal relatedness of -positive isolates was evaluated by enterobacterial repetitive intergenic consensus-PCR (ERIC-PCR) method.

Results: In total, 136 (68%) isolates were nonsusceptible to quinolone compounds, among which 45 (33.1%) and 71 (52.2%) isolates showed high- and low-level quinolone resistance, respectively. Of the 136 isolates, four (2.9%) isolates were positive for the gene. The results from ERIC-PCR revealed that two (50%) cases of -positive isolates were related genetically.

Conclusion: Our study results were indicative of the presence of low frequency of genes among the clinical isolates of in Qazvin and Zanjan Provinces, which emphasizes the need for establishing tactful policies associated with infection-control measures in our hospital settings.
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http://dx.doi.org/10.1016/j.phrp.2016.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079201PMC
October 2016

Simultaneous extraction of acidic and basic drugs via on-chip electromembrane extraction.

Anal Chim Acta 2016 Sep 2;937:61-8. Epub 2016 Aug 2.

Department of Chemistry, Tarbiat Modares University, P.O. Box 14115-175, Tehran, Iran.

In the present work, a on-chip electromembrane extraction (CEME) was designed and employed for simultaneous extraction of mefenamic acid (MEF) and diclofenac (DIC), as acidic model analytes, and betaxolol (BET), as a basic model analyte, followed by HPLC-UV. The CEME consists of two polymethyl methacrylate (PMMA) parts which each part consists of two separated microfluidic channels. A polypropylene sheet membrane impregnated with an organic solvent was sandwiched between the parts. One of the parts was used as the flow path for the sample solution and the other one as holder for the acceptor phases. The separated microfluidic channels of the sample solution part were connected to each other using a small piece of a capillary tube and the sample solution was pumped through them by means of a micro-syringe pump. However, the acceptor phases of the acidic and basic analytes were separately kept stagnant in the two microfluidic channels during the extraction process. A d.c. potential was applied for migration of the analytes from sample solution through the organic membrane into the acceptor phases. All effective variables on the extraction efficiency of the analytes were optimized. Under the optimized conditions, preconcentration factors higher than 15 were achieved and the calibration curves were linear in the range of 10-500 μg L(-1) (r(2) > 0.9982). RSD% values (n = 4) and LODs were less than 7.1% and 5.0 μg L(-1). The results demonstrated that CEME could efficiently be used for the simultaneous analysis of acidic and basic analytes in biological samples.
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http://dx.doi.org/10.1016/j.aca.2016.07.048DOI Listing
September 2016

Electromembrane surrounded solid phase microextraction using electrochemically synthesized nanostructured polypyrrole fiber.

J Chromatogr A 2016 Apr 24;1443:75-82. Epub 2016 Mar 24.

Department of Analytical Chemistry, K. N. Toosi University of Technology, Tehran, Iran.

Electromembrane surrounded solid phase microextraction using conductive polymers as the sorbent is carried out for the first time for extraction of two antidepressants including amitriptyline (AMI) and doxepin (DOX), as model analytes. The polypyrrole coating was prepared and utilized as both cathode and SPME sorbent. Different variables such as the conditions for preparation of polypyrrole fiber, pH of the donor and the acceptor phases, applied voltage, and extraction time were optimized. Under the optimized conditions, figures of merit of the proposed method were investigated in human whole blood and urine samples. Intra- and inter-assay precisions ranged between 3.1-7.5% and 7.6-12.3%, respectively were obtained in different extraction media. Detection limits of 0.15 and 0.05 for AMI and 0.3 and 0.1 ng mL(-1) for DOX were achieved in the urine and blood samples, respectively. Linearity of the method was studied up to 50.0 ng mL(-1) for both analytes and coefficients of determination better than 0.9966 were achieved. Regardless of the high sample cleanup, which makes the proposed method suitable for analysis of drugs from complicated matrices, clean chromatograms were obtained. Finally, the proposed method was applied for analysis of AMI and DOX in different real samples and reasonable data were obtained.
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http://dx.doi.org/10.1016/j.chroma.2016.03.067DOI Listing
April 2016

Electrically stimulated liquid-based extraction techniques in bioanalysis.

Bioanalysis 2016 Apr 23;8(8):815-28. Epub 2016 Mar 23.

Department of Analytical Chemistry, Faculty of Chemistry, K.N. Toosi University of Technology, Tehran, Iran.

Sample preparation is a vital and inseparable part of an analytical procedure. This issue has motivated the analytical research community around the world to develop new, fast and cost-effective extraction methods which can eliminate interfering substances, provide high preconcentration factors and increase the determination sensitivity. Electrical field induced extraction technique is a topic that has received major attention in recent years. This fact can be attributed to the considerable advantages provided by imposition of an electrical driving force especially control of different properties of an extraction system such as selectivity, cleanup, rate and efficiency. In this review, focus is centered on the electrical field induced liquid phase extraction techniques and their potential for bioanalysis.
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http://dx.doi.org/10.4155/bio.16.23DOI Listing
April 2016

Genetic Factors Affecting Late-Onset Alzheimer's Disease Susceptibility.

Neuromolecular Med 2016 Mar 9;18(1):37-49. Epub 2015 Nov 9.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Alzheimer's disease is considered a progressive brain disease in the older population. Late-onset Alzheimer's disease (LOAD) as a multifactorial dementia has a polygenic inheritance. Age, environment, and lifestyle along with a growing number of genetic factors have been reported as risk factors for LOAD. Our aim was to present results of LOAD association studies that have been done in northwestern Iran, and we also explored possible interactions with apolipoprotein E (APOE) status. We re-evaluated the association of these markers in dominant, recessive, and additive models. In all, 160 LOAD and 163 healthy control subjects of Azeri Turkish ethnicity were studied. The Chi-square test with Yates' correction and Fisher's exact test were used for statistical analysis. A Bonferroni-corrected p value, based on the number of statistical tests, was considered significant. Our results confirmed that chemokine receptor type 2 (CCR2), estrogen receptor 1 (ESR1), toll-like receptor 2 (TLR2), tumor necrosis factor alpha (TNF α), APOE, bridging integrator 1 (BIN1), and phosphatidylinositol-binding clathrin assembly protein (PICALM) are LOAD susceptibility loci in Azeri Turk ancestry populations. Among them, variants of CCR2, ESR1, TNF α, and APOE revealed associations in three different genetic models. After adjusting for APOE, the association (both allelic and genotypic) with CCR2, BIN1, and ESRα (PvuII) was evident only among subjects without the APOE ε4, whereas the association with CCR5, without Bonferroni correction, was significant only among subjects carrying the APOE ε4 allele. This result is an evidence of a synergistic and antagonistic effect of APOE on variant associations with LOAD.
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http://dx.doi.org/10.1007/s12017-015-8376-4DOI Listing
March 2016

Application of a new nanocarbonaceous sorbent in electromembrane surrounded solid phase microextraction for analysis of amphetamine and methamphetamine in human urine and whole blood.

J Chromatogr A 2015 May 4;1396:1-6. Epub 2015 Apr 4.

Department of Analytical Chemistry, Faculty of Chemistry, K.N. Toosi University of Technology, Tehran, Iran.

Application of a new carbon-based sorbent was studied for the first time for extraction and quantification of amphetamine and methamphetamine as model analytes by means of electromembrane surrounded solid phase microextraction (EM-SPME). Since the basis of this microextraction method is adsorption of target analytes on the sorbent surface (after transferring across a supported liquid membrane) in an electrical field, the sorbent, which also performs the electrical potential, should have a conductive nature. On the other hand, using a synthesized fiber is a suitable solution to eliminate the interfering compounds existing in the fiber. To extract the model analytes from acidic sample solution through a thin layer of organic phase and into the aqueous acceptor phase and their final adsorption, 150V electrical potential was applied for 15min. Regardless of the high sample cleanup ability of the proposed method, which makes the analysis of complicated biological fluids possible, admissible extraction recoveries (9.0-18.8%) and suitable detection limits (less than 2.0ngmL(-1)) were obtained. Repeatability and reproducibility of the method were studied and intra- and inter-assay precisions were in the ranges of 2.0-7.3% and 7.5-12.5%, respectively. Coefficients of determination larger than 0.9964 were achieved by scrutinizing of the linearity up to 500ngmL(-1) and calibration curves were utilized for quantification of analytes of interest in human urine and whole blood samples.
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http://dx.doi.org/10.1016/j.chroma.2015.03.077DOI Listing
May 2015

Pulsed electromembrane extraction for analysis of derivatized amino acids: A powerful technique for determination of animal source of gelatin samples.

Talanta 2015 May 28;136:190-7. Epub 2015 Jan 28.

Faravari Darooi Gelatin Halal Company, Alborz Industrial City, Qazvin, Iran.

Differentiation of animal sources of gelatin is required for many reasons such as some anxieties about bovine spongiform encephalopathy or a ban on consuming porcine gelatin in some religions. In the present work, an efficient method is introduced for determination of animal origin of gelatin samples. The basis of this procedure is the application of pulsed electric field for extraction, preconcentration, and analysis of derivatized amino acids in gelatin. To this end, after derivatization of amino acids of interest by means of o-phthalaldehyde (OPA) for enhancing their ultraviolet (UV) absorbance as well as increasing their lipophilicities, a 137V electric field was applied for 20min with 10min(-1) frequency to make the analytes migrate through a 200µm organic liquid membrane into an aqueous acceptor phase. Finally, the acceptor phase was analyzed by HPLC-UV. The proposed technique offered a high efficiency for analysis of amino acids, regarding 43% and 79% as extraction recoveries and 25ng mL(-1) and 50ng mL(-1) as limits of detection (LODs) for asparagine and glutamine, respectively. Therefore, due to sample cleanup ability of the proposed method and obtained preconcentration factors (29 and 53 for asparagine and glutamine, respectively), it could be carried out for differentiation of animal origins of gelatin samples, even if only small amounts of samples are available or in complicated media of foodstuffs and medicament.
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http://dx.doi.org/10.1016/j.talanta.2015.01.007DOI Listing
May 2015

Electrochemically assisted solid based extraction techniques: a review.

Talanta 2015 Jan 18;132:339-53. Epub 2014 Sep 18.

Department of Chemistry, Tarbiat Modares University, P.O. Box 14115-175, Tehran, Iran.

The complexity of the matrices of the analytes from a biological sample or environmental origin can disturb the separation and data analysis steps. Thus, the major incentive of recent research trends in environmental and bioanalysis research is to achieve faster, simpler, inexpensive, and more environmental-friendly sample preparation techniques. Application of auxiliary energies is one of the efficient strategies to reach the aforementioned purposes. Among these, application of electrical driving force in different extraction techniques has found remarkable consideration in recent years attributed to its ability in control of different properties of an extraction system such as selectivity, clean-up, rate, and efficiency by imposition of a variable potential difference. This review attempts to explain the principles of electrically assisted solid based extraction techniques as well as different roles of electrical field in these methods in more details. Also, advantages, disadvantages, and limitations of these techniques are discussed providing coherent information and useful insights for future researches.
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http://dx.doi.org/10.1016/j.talanta.2014.08.059DOI Listing
January 2015

A sensitive emulsification liquid phase microextraction coupled with on-line phase separation followed by HPLC for trace determination of sulfonamides in water samples.

Environ Monit Assess 2015 Jan 27;187(1):4162. Epub 2014 Nov 27.

Department of Chemistry, Tarbiat Modares University, P.O. Box 14115-175, Tehran, Iran.

For the first time, ion-pair based emulsification liquid phase microextraction coupled with a novel approach for phase separation followed by high performace liquid chromatgraphy (HPLC) was utilized for trace determination of sulfonamides in water samples. After the formation of ion-pair complex with a cationic surfactant, sulfonamides were extracted into the drops of dispersed organic extracting solvent. Then, the cloudy solution was passed through an in-line filter located in a suitable holder and was separated based on emulsion filtration. By changing the HPLC valve position, the filter was laid in the mobile phase path, and the extraction phase was eluted by the mobile phase and introduced into the separation column for analysis. The effects of important parameters, such as type of extraction solvent, type of ion-pair agent and its concentration, pH of sample solution, ionic strength, and volume of extraction phase, on the extraction efficiency, were investigated and optimized. Under optimal conditions, the linear range, limits of detection, and precision (relative standard deviations) were 0.3-100, 0.1-0.3 μg L(-1), and 4.7-5.8%, respectively. Preconcentration factors (PFs) for the compounds studied were obtained in the range of 268-664. These PFs correspond to extraction recoveries in the range of 41-97%. The sample throughput of the method was 3 samples per hour, regarding 20 min analysis time for a single procedure. Finally, the method was successfully applied to determine the selected sulfonamides in some water samples.
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http://dx.doi.org/10.1007/s10661-014-4162-2DOI Listing
January 2015

Microextraction in urine samples for gas chromatography: a review.

Bioanalysis 2014 ;6(19):2663-84

Department of Chemistry, Tarbiat Modares University, PO Box 14115-175, Tehran, Iran.

Since the complexity origin of biological samples, the research trends have been directed to the development of new miniaturized sample preparation techniques. This review provides a comprehensive survey of past and present microextraction methods followed by GC analysis for preconcentration and determination of various analytes in urine samples. These techniques have been classified in three general groups, including liquid-, solid- and membrane-based techniques. The principal of different microextraction methods that are located in each general group as well as their various extraction modes and the recent developments introduced for them has been presented. Subsequently, a comparison survey has been carried out among different microextraction techniques and finally a future perspective has been predicted based on the existing literature.
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http://dx.doi.org/10.4155/bio.14.215DOI Listing
July 2015

Low voltage electrically stimulated lab-on-a-chip device followed by red-green-blue analysis: a simple and efficient design for complicated matrices.

Analyst 2014 Nov;139(21):5531-7

Department of Analytical Chemistry, Faculty of Chemistry, K.N. Toosi University of Technology, P.O. Box 16315-1618, Tehran, Iran.

In the present work, a simple and portable analysis device was designed for the first time for the determination of lead ions as the model analyte. The basis of the lead analysis is its extraction and pre-concentration in an acceptor droplet via the application of an electrical field. The acceptor droplet is a KI solution and therefore, the formation of a yellow precipitation of PbI2 was a sign of the presence of lead ion in the solution. Following this, digital picture of the final acceptor droplet was analyzed by investigating its Red-Green-Blue (RGB) components. The results show that the RGB intensities of the acceptor phase are proportionate to the lead concentration in the sample solution. Also, a 9.0 V battery was used to apply the electrical field, and other effective parameters, such as the type of organic liquid membrane, pH of the sample solution, and the extraction time, were considered to obtain the optimal conditions. The model analyte was determined by extracting it from a 100 μL sample solution across a thin layer of 1-octanol, immobilized in the pores of a polypropylene membrane sheet, and into the acceptor droplet via applying a 9.0 V electrical potential for 20 min. The device is capable of determining lead ions down to 20.0 ng mL(-1), with admissible repeatability and reproducibility (the intra- and inter-assay precision ranged between 3.8-7.0% and 9.8-11.9%, respectively). Also, we calculated error% for the model analyte in the range of -8.5 to +4.5, which suggests that the chip offers acceptable accuracy for the analysis of lead ions. The linearity was studied in the range of 50.0-1500 ng mL(-1), with a correlation coefficient of 0.9994. Finally, the designed device was used for the analysis of lead in real samples.
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http://dx.doi.org/10.1039/c4an01124dDOI Listing
November 2014
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