Publications by authors named "Somayeh Reiisi"

18 Publications

  • Page 1 of 1

Contribution of hsa-miR-146a and hsa-miR-223 gene variations in patients with multiple sclerosis reveals association of rs2910164 and rs1044165 with risk of multiple sclerosis susceptibility.

J Investig Med 2021 Jan 21. Epub 2021 Jan 21.

Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran

MicroRNAs (miRNAs) are a group of non-coding RNAs that play a role in gene regulation. Due to their possible functional importance, genetic variants within miRNA genes have been recognized as candidate biomarkers. Single-nucleotide polymorphisms (SNPs) in miRNA genes can be related to the risk of different autoimmune diseases. Some of these SNPs are rs2910164 in the miR-146a and rs1044165 in the miR-223. The aim of this study was to investigate the relationship between these polymorphisms and the risk of multiple sclerosis (MS) in an Iranian population. In this case-control study, 261 patients with MS and 250 healthy controls that matched by age and geographical region were enrolled. After sampling and genomic DNA extraction, genotyping was determined by PCR-restriction fragment length polymorphism. Allelic and genotypic associations between the SNPs and MS were evaluated by the data analysis conducted by SPSS V.20. The frequencies of rs2910164 and rs1044165 SNPs were significantly different between the patients with MS and healthy controls. C and T alleles in the variants rs2910164 and rs1044165, respectively, are associated with increased risk of MS. Such association was obtained in codominant, dominant, and overdominant models for both variants (OR ~3 and OR ~1.5, respectively). Furthermore, this study determined that the C and T alleles of rs2910164 and rs1044165 are risk factors for MS in the Iranian population.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1136/jim-2020-001539DOI Listing
January 2021

Regulatory and immunomodulatory role of miR-34a in T cell immunity.

Life Sci 2020 Dec 4;262:118209. Epub 2020 Aug 4.

Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran. Electronic address:

miRNAs are a class of non-coding RNAs and very conserve molecules that negatively regulate the expression of many genes by targeting the 3' UTR of mRNAs. miRNAs are involved in the modulation of T-cell biology during the earliest and last stages and key controllers of T-cell differentiation and function. The miR-34a, as a major hub of the regulatory network of T cells, plays an important role in T cell activation. miR-34a is widely expressed in immune cells (dendritic cells, macrophages, mast cells, B cells, and T cells) and regulates their development, function, and survival. This miRNA, by targeting over 30 genes across different cellular pathways controls immune response. miR-34a expression is controlled by p53 in transcription level. As well as, miR-34a by activating dendritic cells mediates innate immune response and increases tumor-infiltrating CD8 expression T lymphocytes. In various types of cancers and autoimmune diseases, miR-34a can regulate T cell function and become a possible significant target of microRNA-based therapy. Therefore, in this review, we focus on miR-34a-related regulatory mechanisms in T cell function and understanding mechanisms and molecules involved in this network.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lfs.2020.118209DOI Listing
December 2020

miRNAs, oxidative stress, and cancer: A comprehensive and updated review.

J Cell Physiol 2020 11 11;235(11):8812-8825. Epub 2020 May 11.

Department of Medical Laboratory Science, College of Sciences, University of Raparin, Ranya, Kurdistan Region, Iraq.

Oxidative stress refers to elevated levels of intracellular reactive oxygen species (ROS). ROS homeostasis functions as a signaling pathway for normal cell survival and appropriate cell signaling. Chronic inflammation induced by imbalanced levels of ROS contributes to many diseases and different types of cancer. ROS can alter the expression of oncogenes and tumor suppressor genes through epigenetic modifications, transcription factors, and non-coding RNAs. MicroRNAs (miRNAs) are small non-coding RNAs that play a key role in most biological pathways. Each miRNA regulates hundreds of target genes by inhibiting protein translation and/or promoting messenger RNA degradation. In normal conditions, miRNAs play a physiological role in cell proliferation, differentiation, and apoptosis. However, different factors that can dysregulate cell signaling and cellular homeostasis can also affect miRNA expression. The alteration of miRNA expression can work against disturbing factors or mediate their effects. Oxidative stress is one of these factors. Considering the complex interplay between ROS level and miRNA regulation and both of these with cancer development, we review the role of miRNAs in cancer, focusing on their function in oxidative stress.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcp.29724DOI Listing
November 2020

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for Mutations.

Iran J Public Health 2019 Sep;48(9):1704-1713

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Autosomal recessive non-syndromic hearing loss (ARNSHL), one of the global public health concerns, is marked by a high degree of genetic heterogeneity. The role of as the most common cause of ARNSHL, is only <20% in the Iranian population. Here, we aimed to determine the relative contribution of several apparently most common loci in a cohort of ARNSHL Iranian families that were negative for the mutations.

Methods: Totally, 80 Iranian ARNSHL families with 3 or more affected individuals from Isfahan and Hamedan provinces, Iran were enrolled in 2017. After excluding mutations in the gene via Sanger sequencing, 60 negative samples (30 families from each province) were analyzed using homozygosity mapping for 10 ARNSHL loci.

Results: Fourteen families were found to be linked to five different known loci, including DFNB4 (5 families), DFNB2 (3 families), DFNB7/11 (1 family), DFNB9 (2 families) and DFNB3 (3 families).

Conclusion: Despite the high heterogeneity of ARNSHL, the genetic causes were determined in 23.5% of the studied families using homozygosity mapping. This data gives an overview of the ARNSHL etiology in the center and west of Iran, used to establish a diagnostic gene panel including most common loci for hearing loss diagnostics.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825662PMC
September 2019

Downregulation of miR-4443 and miR-5195-3p in ovarian cancer tissue contributes to metastasis and tumorigenesis.

Arch Gynecol Obstet 2019 05 27;299(5):1453-1458. Epub 2019 Feb 27.

Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran.

Background And Purpose: Ovarian cancer (OC) is one of the most fatal malignancies in women. High mortality rate may be due to problems with diagnosis in the early stages. The use of new biomarkers for faster diagnosis and selection of more efficient therapies is one of the main concerns in this area. miRNAs are non-coding and conserved molecules that are involved in regulating gene expression throughout different cell processes. Few studies have been conducted on the effects of miR-4443 and miR-5195-3p in cancer. Therefore, to determine the role of these miRNAs in OC, this study was directed to investigate the expression rate in OC tissue samples and its relationship with clinical factors.

Methods: Expression levels of miR-4443 and miR-5195 were evaluated in 45 ovarian tumor and 45 ovarian non-tumor tissue samples paraffin embedded using qPCR. Expression was investigated by miRNA-specific primers and then statistical analysis was performed to determine the significance. In the next step, the relationship between clinopathologic factors and miRNA expression was investigated.

Results: The results showed that miR-4443 decreased in OC in metastatic and serous OC samples (0.154-fold, P < 0.0001). As well as, significant reduction in miR-5195-3p was observed in cancer samples (0.373-fold, P < 0.0001) and its reduction was associated with metastasis.

Conclusion: As a result, the two studied miRNAs may contribute to suppressing tumor, so that decrease in their expression is associated with increased cell proliferation and invasion. Further investigation can help to suggest these miRNAs as diagnostic biomarkers or therapeutic targets in OC.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00404-019-05107-xDOI Listing
May 2019

Increased risk of polycystic ovary syndrome (PCOS) associated with CC genotype of miR-146a gene variation.

Gynecol Endocrinol 2018 Sep 11;34(9):793-797. Epub 2018 Apr 11.

b Cellular and Molecular Research Center, Basic Health Sciences Institute , Shahrekord University of Medical Sciences , Shahrekord , Iran.

Polycystic ovary syndrome (PCOS) is an endocrinopathy in reproductive-age women believed to be affected by several genetics and environmental factors or both. Different miRNAs are one of such genetic factors that their associations with PCOS have been implicated. For instance, miR-146a that is well known for strongly regulating the immune response and inflammation was upregulated in serum plasma, follicular fluid and granulosa cells of PCOS patients. Different studies have shown that genetic changes in pre-miRNA can cause change in the expression or biological function of mature miRNA. Therefore, the main aim of this study was to investigate the association of miR-146a gene variation (rs2910164) with the susceptibility to PCOS. This study consists of 180 patients with PCOS and 192 healthy women matched by age and geographical region. Genotyping were determined by using PCR-RFLP in all subjects. The genotype frequency and allele distributions of all subjects were evaluated using Fisher's exact test directed by SPSS v.20. The genotype and allele frequencies of the miR-146a polymorphism (rs2910164) significantly differ between PCOS and healthy controls. The frequencies of CC genotype (p = .054) and 'C' allele (p = .0001) of the miR-146a variant indicated a significant incidence in cases compared to controls. Such association was obtained in co-dominant (OR = 3.16) and dominant (OR = 2.29) models. Result of this study can be proposed that women with miR-146a variation are at a higher risk for developing PCOS, which can be due to up-regulation of miR-146a.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09513590.2018.1460341DOI Listing
September 2018

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

Int J Pediatr Otorhinolaryngol 2018 Apr 31;107:121-126. Epub 2018 Jan 31.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address:

Objective: Hereditary hearing loss (HL) is a noticeable concern in medicine all over the world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a major public health issue. Autosomal recessive non-syndromic HL (ARNSHL) is the most prevalent form of HL. Although over 60 genes have been identified for ARNSHL, GJB2 mutations are the most prevalent causes of ARNSHL in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be between 16 and 18% in Iran, but would vary among different ethnic groups. In the present study, we aimed to determine the frequency and mutation profile of 70 deaf patients from two different provinces (center and west) of Iran.

Methods: We enrolled 70 Iranian deaf patients with ARNSHL from Isfahan (40 family) and Hamedan (30 family) provinces. After extraction of genomic DNA, the entire coding region of GJB2 was directly sequenced in all patients. Multiplex PCR was used for detection of del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene. In silico analyses were also performed by available software tools.

Results: A total of eleven different mutations were detected, nine of which were previously reported and the other two (c.130T > G and c.178T > G) were novel. Homozygous GJB2 mutations were observed in 22.5% and 20% of all the subjects from Isfahan and Hamedan provinces, respectively. c.35delG was the most frequent mutation. One compound heterozygous genotype (c.358_360delGAG/c.35delG) was observed for c.35delG. Screening for the two GJB6 deletions did not reveal any positive sample among heterozygous or GJB2 negative samples.

Conclusions: The present study suggests that mutations in the GJB2 gene specially c.35delG are important causes of ARNSHL in the center and west of Iran. Totally, 15% of the patients were heterozygous carriers. Further investigation is needed to detect the genetic cause of HL in the patients with monoallelic GJB2 mutations.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2018.01.012DOI Listing
April 2018

Broad blocking of MDR efflux pumps by acetylshikonin and acetoxyisovalerylshikonin to generate hypersensitive phenotype of malignant carcinoma cells.

Sci Rep 2018 02 22;8(1):3446. Epub 2018 Feb 22.

Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Cytotoxic activities of acetylshikonin and acetoxyisovalerylshikonin alone and in combination with chemotherapeutic agents against parental and drug resistant cell lines were determined using the MTT assay. Effects of Shikonin derivatives on BCRP, MDR1 and MRP transcript and protein levels were relatively measured. Finally, accumulation and efflux kinetics were conducted. The results revealed cell- and concentration-dependency of the cell cytotoxicity. Acetylshikonin and acetoxyisovalerylshikonin transiently made the mRNA ocean turbulent, but FACS analyses using fluorescent-labeled antibodies showed no significant change in the MDR-protein levels. Functional kinetics revealed significant block of MDR1, BCRP and MRP transporter in the presence of shikonin derivatives. Maximum accumulation fold changes was quantified to be 4.4 and consequently, acetoxyisovalerylshikonin pretreated EPG85.257RDB cells was chemosensitized to daunorubicin tension 3.1-fold. Although, the MDR blockage was reported to follow time- and cell-dependent patterns, MDR1, BCRP and MRP2 responses to the shikonins are concentration-independent. These data suggest uncompetitive transporter blockage behavior of these agents. The results indicated that shikonin derivatives stimulate uptake and reduce efflux of chemotherapeutic agents in the malignant cancer cells, suggesting that chemotherapy in combination with shikonin compounds may be beneficial to cancer cells that overexpress multidrug resistance transporters.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-21710-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823906PMC
February 2018

Human glutathione s-transferase enzyme gene variations and risk of multiple sclerosis in Iranian population cohort.

Mult Scler Relat Disord 2017 Oct 28;17:41-46. Epub 2017 Jun 28.

Department of Neurology, Shahrekord University of Medical Sciences and Health Services, Iran.

Multiple sclerosis (MS) is an inflammatory disease with unknown etiology. Oxidative stress has been demonstrated to play a role in pathological and inflammatory mechanisms of MS. Cells activate antioxidant processes in response to oxidative stress. Glutathione is one of the antioxidant agents in the brain and serves as a cofactor for glutathione s-transferase (GST) enzymes for detoxifying nerve cells. Among different classes of GST, GSTM1 and GSTT1 are associated with the loss of function due to structural homozygous deletion. The aim of this study is to investigate GSTM1 and GSTT1 null genotypes in an Iranian population. In this study, 270 patients and 250 healthy controls were investigated. Patient's disabilities were assessed by Kurtzke Expanded Disability Status Scale (EDSS) and genotypes were determined by multiplex PCR. Association between genotype and MS, type of MS, gender, and inability level were surveyed. The findings demonstrated a highly significant association between the null genotypes and MS (OR = 6.89 for M1/T1). The combination of two genotypes increased the risk of MS by 6.8 times. The null genotypes were found to be more frequent in women than in men. Moreover, a significant association was observed between the null genotype and EDSS 6-10 (OR = 3.199). No significant association was noticed between MS type and the studied genotypes. According to this study, it can be proposed that people with GSTM1 and GSTT1 deletions are at a higher risk for developing MS, which can be due to a decrease in enzymatic activity and their levels in nerve cells and the brain.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.msard.2017.06.016DOI Listing
October 2017

cag Pathogenicity island-dependent upregulation of matrix metalloproteinase-7 in infected patients with Helicobacter pylori.

J Immunoassay Immunochem 2017 12;38(6):595-607. Epub 2017 Jul 12.

a Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences , Shahrekord , Iran.

Helicobacter pylori (H. pylori) infection has been involved in the pathogenesis of most important gastroduodenal diseases. Matrix metalloproteinases (MMPs) are a large family of zincendopeptidases which play important roles in degradation of extracellular matrix (ECM) and various inflammatory diseases. Therefore, we examined MMP-7 mRNA levels in the gastric mucosa of patients with H. pylori infection and evaluated the effects of virulence factors, such as vacA (vacuolating cytotoxin A) and cagA (cytotoxin-associated gene), in H. pylori-infected patients upon the MMP-7 mRNA mucosal levels. We also determined the correlation between mucosal MMP-7 mRNA levels and the types of disease. Total RNA was extracted from gastric biopsies of 50 H. pylori-infected patients and 50 uninfected individuals. Mucosal MMP-7 mRNA expression level in H. pylori-infected and non-infected gastric biopsies was determined by real-time polymerase chain reaction (PCR). The presences of cagA and vacA virulence factors was evaluated using PCR. MMP-7 expression was significantly higher in biopsies of patients infected with H .pylori compared to uninfected individuals. In addition, mucosal MMP-7 mRNA expression in H. pylori-infected patients significantly associated with the cagA status and the types of disease. Our results suggest that MMP-7 might be involved in the pathogenesis of H. pylori. Peptic ulcer was associated with cag pathogenicity island-dependent MMP-7 upregulation.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/15321819.2017.1351372DOI Listing
February 2018

Screening of Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran.

Iran J Public Health 2017 Jan;46(1):76-82

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Background: Hearing loss (HL) is the most frequent neurosensory impairment. HL is highly heterogeneous defect. This disorder affects 1 out of 500 newborns. This study aimed to determine the role of DFNB2 locus and frequency of gene mutations in a population from west of Iran.

Methods: Thirty families investigated in Shahrekord University of Medical Sciences in 2014, genetic linkage analysis via four short tandem repeat markers linked to was performed for two consanguineous families originating from Hamedan (family-13) and Chaharmahal-Bakhtiari (family-32) provinces of Iran, co-segregating autosomal recessive HL and showed no mutation in gene in our preliminary investigation. All 49 coding exons and exon- intron boundaries of the gene were amplified by PCR and analyzed using direct DNA sequencing.

Results: Two of families displayed linkage to DFNB2. Family-13 segregated a homozygous missense mutation (c.6487G>A) in exon 48 that results in a p.G2163S amino acid substitution in C-terminal domain of the myosin VIIA protein. While family-32 segregated a homozygous nonsense mutation (c.448 C>T) in exon five, resulting in a premature truncation at amino acid position 150 (p.Arg150X) in the motor domain of this protein.

Conclusion: Mutation frequency of gene in different populations of Iran as well as cause of HL in most cases are still unknown and more extensive studies have to be done.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5401939PMC
January 2017

Helicobacter pylori and Its Virulence Factors' Effect on Serum Oxidative DNA Damages in Adults With Dyspepsia.

Acta Med Iran 2016 Nov;54(11):704-708

Department of Genetics, School of Basic Sciences, Shahrekoed University, Shahrekord, Iran.

Helicobacter Pylori infection is a common gastrointestinal infection that can cause pathological effects, increase oxidative stress and induce an inflammatory response in gastric mucosa. Inflammatory aspects may prompt the production of radical oxygen substance (ROS) which may damage cells and release 8-hydroxydyoxyguanosine (8-OHdG) to serum. In this study, we evaluate the prevalence of H. pylori virulence factors and the association between serum level of 8-OHdG, H. pylori infection, and its various virulence factors. The presence of H. pylori and prevalence of cagA, babA and oipA genes in samples were determined by rapid urease test (RUT), histopathological exam (HE) and polymerase chain reaction (PCR) and oxidative DNA damage situation were assessed by using serum level of 8-OHdG. There was not any direct relation between H. pylori negative and H. pylori oipA+specimens by 8-OHdG serum level (P>0.05). In all clinical observations, the presence of cagA and oipA genes was common. There was a statistical relationship between the presence of cagA, babA factors, and high serum level of 8-OHdG (P<0.05). The presence of cagA and babA virulence factors may be associated with increased serum 8-OHdG in dyspeptic patients and may induce the damage to gastric cells.
View Article and Find Full Text PDF

Download full-text PDF

Source
November 2016

A novel TECTA mutation causes ARNSHL.

Int J Pediatr Otorhinolaryngol 2017 Jan 15;92:88-93. Epub 2016 Nov 15.

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran. Electronic address:

Objective: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL).

Methods: 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in this study. Clinical inspections including audiometric and otologic examinations ruled out syndromic forms. Genetic linkage analysis was performed using six short tandem repeat markers closely linked to DFNB21. Haplotype and LOD score analysis were used to confirm possible linkage. All coding exons of TECTA were subject to DNA sequencing in the linked family.

Results: A novel homozygous variant (c.734G > A) was found in exon 5 of the TECTA gene in one family leading to a nonsense mutation (p.W245×). It co-segregated with HL in the family. This variant was not detected in 50 controls. All affected individuals in the family had moderate to severe HL. It full filled the criteria of a pathogenic variant.

Conclusion: Our data confirms the phenotype-directed genotyping for DFNB21 deafness against the typical profound HL phenotype seen in the most families segregating ARNSHL. We recommend mutation screening of TECTA in ARNSHL families segregating moderate to severe HL phenotype.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2016.11.010DOI Listing
January 2017

High-throughput bioaccumulation, biotransformation, and production of silver and selenium nanoparticles using genetically engineered Pichia pastoris.

Nanomedicine 2017 04 25;13(3):853-861. Epub 2016 Oct 25.

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran. Electronic address:

A genetically modified Pichia pastoris strain overexpressing a metal-resistant variant of cytochrome b5 reductase enzyme was developed for silver and selenium biosorption and for nanoparticle production. The maximum recombinant enzyme expression level was approximately 31 IU/ml in the intercellular fluid after 24 h of incubation, and the capacity of the recombinant biomass for the biosorption of silver and selenium in aqueous batch models were measured as 163.90 and 63.71 mg/g, respectively. The ions were reduced in the presence of enzyme, leading to the formation of stable 70-180 nm metal nanoparticles. Various instrumental analyses confirmed the well-dispersed and crystalline nature of the spherical nanometals. The purified silver and selenium nanoparticles exhibited at least 10-fold less cytotoxicity toward HDF, EPG85-257, and T47D cells than silver nitrate and selenium dioxide. These results revealed that the engineered Pichia strain is an eco-friendly, rapid, high-throughput, and versatile reduction system for nanometal production.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nano.2016.10.009DOI Listing
April 2017

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family.

Iran J Basic Med Sci 2016 Jul;19(7):772-8

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Objectives: Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-syndromic hearing loss (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide.

Materials And Methods: The aim of the present study was to define the role and frequency of MYO15A gene mutation in Iranian families. In this study 30 Iranian families were enrolled with over three deaf children and negative for GJB2. Then linkage analysis was performed by six DFNB3 short tandem repeat markers. Following that, mutation detection accomplished using DNA sequencing.

Results: One family (3.33%) showed linkage to DFNB3 and a novel mutation was identified in the MYO15A gene (c.6442T>A): as the disease-causing mutation. Mutation co-segregated with hearing loss in the family but was not present in the 100 ethnicity-matched controls.

Conclusion: Our results confirmed that the hearing loss of the linked Iranian family was caused by a novel missense mutation in the MYO15A gene. This mutation is the first to be reported in the world and affects the first MyTH4 domain of the protein.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010850PMC
July 2016

Association Between Helicobacter pylori cagA, babA2 Virulence Factors and Gastric Mucosal Interleukin-33 mRNA Expression and Clinical Outcomes in Dyspeptic Patients.

Int J Mol Cell Med 2015 ;4(4):227-34

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Helicobacter pylori (H. pylori) infection has been reported in more than half of the world human population. It is associated with gastric inflammation and noticeable infiltration of the immune cells to the stomach mucosa by several cytokines secretion. IL-1β, IL-18 have been shown to contribute to H. pylori induced gastritis, but the details of inflammation and association of virulence factors remain unclear. IL-1 cytokine family has a new additional cytokine, Interleukin-33 (IL-33), which is contemplated to have an important role for host defense against microorganisms. H. pylori virulence factors important in gastritis risk are the cag pathogenicity island (cag-PAI) and babA. This study evaluated IL-33 mucosal mRNA expression levels in infected and uninfected patients and its relationship with bacterial virulence factors cagA, babA2 and type of gastritis. Total RNA was extracted from gastric biopsies of 79 H. pylori-infected patients and 51 H. pylori-negative patients. Mucosal IL-33 mRNA expression levels in gastric biopsies were assessed using real-time PCR. Existence of virulence factors were detected by PCR. IL-33 mRNA expression was significantly higher in biopsies of H. pylori-infected patients compared to H. pylori-uninfected patients (P<0.0001). Also there was a direct relationship between virulence factor bab-A2 and enhancement in IL-33 mRNA expression. Furthermore, IL-33 mRNA expression level was significantly lower in chronic gastritis patients compared with patients with active gastritis (P<0.001). IL-33 may play a crucial role in the inflammatory response and induction of the chronic gastritis and severity of inflammatory changes in the gastric mucosa.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769600PMC
March 2016

The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations.

Int J Mol Cell Med 2014 ;3(3):176-82

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambiguous. With regard to studies, DFNB4 locus (SLC26A4) can be classified as the second cause of hearing loss. So, this study aimed to determine the contribution of this locus in hearing loss as well as the frequency of SLC26A4 gene mutations in a population in the west of Iran. In this descriptive laboratory study, we included 30 families from the west of Iran with no mutation in GJB2 gene. Linkage analysis was performed by DFNB4 (SLC26A4) molecular markers (STR). The families with hearing loss linked to this locus were further analyzed for mutation detection. SLC26A4 gene exons were amplified and analyzed using direct DNA sequencing. In studied families, 2 families displayed linkage to DFNB4 locus. Identified mutations include mutation in exon 5 (c.416 G>T) and in splicing site of exon 7 (IVS-2 A>G or c.919-2 A>G).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170491PMC
October 2014

Isolation, culture and identification of epidermal stem cells from newborn mouse skin.

In Vitro Cell Dev Biol Anim 2010 Jan;46(1):54-9

Department of Biology, Faculty of Basic Sciences, University of Shahrekord, Shahrekord, Iran.

In healthy individuals, skin integrity is maintained by epidermal stem cells which self-renew and generate daughter cells that undergo terminal differentiation. Epidermal stem cells represent a promising source of stem cells, and their culture has great potential in scientific research and clinical application. However, no single method has been universally adopted for identifying and isolating epidermal stem cells. Here, we reported the isolation and characterization of putative epidermal stem cells from newborn mouse skin. The keratinocytes were separated enzymatically. Putative epidermal stem cells were selected by rapid adherence on a composite matrix made of type I collagen and fibronectin. Unattached cells were discarded after 10 min, and the attached cells were cultured in a defined culture medium. The isolated cells showed the typical epidermal stem cell morphology. Immunofluorescence indicated that the cells were strongly stained for β1 integrin family of extracellular matrix receptors. In conclusion, mouse putative epidermal stem cells were successfully isolated from newborn mouse epidermis on the basis of high rapid adhesion to extracellular matrix proteins and cultured in vitro.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11626-009-9245-yDOI Listing
January 2010