Publications by authors named "Seyed Mohammad Bagher Tabei"

15 Publications

  • Page 1 of 1

A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction.

ARYA Atheroscler 2020 Nov;16(6):301-305

Assistant Professor, Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran.

Background: Myocardial infarction (MI) is a multifactorial disease caused by the suspension of blood circulation in a part of the myocardium. Understanding the genetic basis of MI can provide insight regarding the pathogenesis of the disease. The aim of this study was to investigate the association between pathogenic mutations and early-onset MI in five families with familial MI and without common MI risk factor.

Methods: Patients with MI younger than 50 years with family history of MI and without common diagnostic criteria (obesity, diabetes, familial hypercholesterolemia, opium/alcohol use) were evaluated for pathogenic mutations by whole exome sequencing (WES) and mutation was confirmed by polymerase chain reaction (PCR)-Sanger sequencing.

Results: The c.2855G > A missense mutation with homozygous autosomal recessive inheritance was identified in low-density lipoprotein receptor-related protein 8 (LRP8) gene in all patients of a family.

Conclusion: The c.2855G > A (R952Q) mutation in LRP8 gene in homozygous state could be considered as a possible etiology of early-onset familial MI.
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http://dx.doi.org/10.22122/arya.v16i6.1797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172235PMC
November 2020

Phenotype of ST3GAL3 deficient patients: A case and review of the literature.

Eur J Med Genet 2021 Aug 20;64(8):104250. Epub 2021 May 20.

Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:

ST3GAL3 deficiency is an extremely rare autosomal recessive disorder caused by pathogenic mutations in the ST3GAL3 gene. Epilepsy, motor development delay, severe intellectual disability, and behavioral disorders have been reported to be associated with ST3GAL3 deficiency. In the present study, ST3GAL3 deficiency was caused by a homozygous splice-site mutation (NM_174964.4: c.936+1delG) in ST3GAL3. The patient described in this study was clinically similar to previously reported cases; nevertheless, we were able to detect repetitive behavior, previously not reported manifestations.
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http://dx.doi.org/10.1016/j.ejmg.2021.104250DOI Listing
August 2021

Exploring the dysregulated mRNAs-miRNAs-lncRNAs interactions associated to idiopathic non-obstructive azoospermia.

J Biomol Struct Dyn 2021 Jan 26:1-9. Epub 2021 Jan 26.

Institute of Molecular Bioimaging and Physiology (IBFM), National Research Council (CNR), Milan, Italy.

Non-obstructive azoospermia (NOA) is the most clinical problem in case of infertility. About 70% of NOA patients are idiopathic with uncharacterized molecular mechanisms. This study aimed to analyze the possible pathogenic miRNA-target gene interaction and lncRNA-miRNA association involved in NOA. In the current study, differentially expressed (DE) nRNAs, miRNAs and lncRNAs were determined using the microarray dataset and statistical software R. miRNAs-mRNA and miRNA-lncRNA interactions were identified and the base-pair binding between the seed region of miRNAs and complementary nucleotides in 3' UTR of mRNAs were analyzed. The influence of the validated single nucleotide polymorphisms (SNPs) was described by calculating the minimum free energy (MFE) of the interaction. A total of 74 mRNAs, 14 miRNAs, and 10 lncRNAs were identified to have significant differential expression in testicular tissue between patients and the fertile group. Four of the DE-mRNAs and all of the reported DE-miRNAs were upregulated. In addition, all of the represented DE-lncRNAs were showed to be downregulated. miR-509-5p and miR-27b-3p were found to interact with target gene polo-like kinase 1 (PLK1) and Cysteine-rich secretory protein2 (CRISP2), respectively. Rs550967205 (A > G) positioned at 3' UTR CRISP2 and rs544604911 (T > C) located at 3' UTR PLK1, with lowest MFE in miRNA-mRNA interaction, were assumed to have possible pathogenic roles linked to spermatogenesis arrest. The results of the study provide new clues to understand the regulatory roles of miRNAs and lncRNAs in the pathogenesis and diagnosis of idiopathic azoospermia. Communicated by Ramaswamy H. Sarma.
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http://dx.doi.org/10.1080/07391102.2021.1875879DOI Listing
January 2021

Comparative analysis of mouse bone marrow and adipose tissue mesenchymal stem cells for critical limb ischemia cell therapy.

Stem Cell Res Ther 2021 01 13;12(1):58. Epub 2021 Jan 13.

Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.

Introduction: Critical limb ischemia (CLI) is the most advanced form of peripheral arterial disease (PAD) characterized by ischemic rest pain and non-healing ulcers. Currently, the standard therapy for CLI is the surgical reconstruction and endovascular therapy or limb amputation for patients with no treatment options. Neovasculogenesis induced by mesenchymal stem cells (MSCs) therapy is a promising approach to improve CLI. Owing to their angiogenic and immunomodulatory potential, MSCs are perfect candidates for the treatment of CLI. The purpose of this study was to determine and compare the in vitro and in vivo effects of allogeneic bone marrow mesenchymal stem cells (BM-MSCs) and adipose tissue mesenchymal stem cells (AT-MSCs) on CLI treatment.

Methods: For the first step, BM-MSCs and AT-MSCs were isolated and characterized for the characteristic MSC phenotypes. Then, femoral artery ligation and total excision of the femoral artery were performed on C57BL/6 mice to create a CLI model. The cells were evaluated for their in vitro and in vivo biological characteristics for CLI cell therapy. In order to determine these characteristics, the following tests were performed: morphology, flow cytometry, differentiation to osteocyte and adipocyte, wound healing assay, and behavioral tests including Tarlov, Ischemia, Modified ischemia, Function and the grade of limb necrosis scores, donor cell survival assay, and histological analysis.

Results: Our cellular and functional tests indicated that during 28 days after cell transplantation, BM-MSCs had a great effect on endothelial cell migration, muscle restructure, functional improvements, and neovascularization in ischemic tissues compared with AT-MSCs and control groups.

Conclusions: Allogeneic BM-MSC transplantation resulted in a more effective recovery from critical limb ischemia compared to AT-MSCs transplantation. In fact, BM-MSC transplantation could be considered as a promising therapy for diseases with insufficient angiogenesis including hindlimb ischemia.
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http://dx.doi.org/10.1186/s13287-020-02110-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7805174PMC
January 2021

Efficacy of insulin targeted gene therapy for type 1 diabetes mellitus: A systematic review and meta-analysis of rodent studies.

Iran J Basic Med Sci 2020 Apr;23(4):406-415

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

Diabetes mellitus (DM) is a major worldwide public health challenge, for which gene therapy offers a potential therapeutic approach. To date, no systematic review or meta-analysis has been published in this area, so we examined all relevant published studies on rodents to elucidate the overall effects of gene therapy on bodyweight, intraperitoneal glucose tolerance test (IPGTT), fasting blood glucose, and insulin in animals with type 1 DM. The Cochrane Library, PubMed, Embase, ISI Web of Science, SCOPUS, and Google Scholar were systematically searched for potentially relevant studies. Mean±standard deviation (SD) was pooled using a random-effects model. After the primary search, out of 528 studies identified, 16 studies were in concordance with predefined criteria and selected for the final assessment. Of these, 12 studies used viral manipulation, and 4 employed non-viral vectors for gene delivery. The meta-analysis showed gene therapy with a viral vector decreased mean IPGTT (-12.69 mmol/l, 0.001), fasting blood glucose (-13.51 mmol/l, 0.001), insulin (398.28 pmol/l, 0.001), and bodyweight (24.22 g, 0.001), whereas non-viral vectors reduced fasting glucose (-29.95 mmol/l, 0.001) and elevated insulin (114.92 pmol/l, 0.001). Gene therapy has favorable effects on alleviating type 1 DM related factors in diabetic rodents.
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http://dx.doi.org/10.22038/ijbms.2020.39470.9359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239425PMC
April 2020

MicroRNA-126: Dual Role in Angiogenesis Dependent Diseases.

Curr Pharm Des 2020 ;26(38):4883-4893

Department of Molecular Medicine, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Background: MicroRNA-126, a microRNA implicated in blood vessel integrity and angiogenesis is significantly up/down regulated in different physiological and pathological conditions related to angiogenesis such as cardiovascular formation and angiogenesis dependent diseases. MicroRNA-126 plays a critical role in angiogenesis via regulating the proliferation, differentiation, migration, and apoptosis of angiogenesis related cells such as endothelial cells.

Objective: The aim of this review is to investigate the molecular mechanisms and the effects of microRNA-126 on the process of angiogenesis in pathophysiological conditions.

Methods: To conduct this review, related articles published between 2001 and 2019 were collected from the PubMed, Web of Science, Google Scholar, Scopus and Scientific Information Database using search terms such as microRNA-126, angiogenesis, cardiovascular disorders, hypoxia, VEFG-A, endothelial cells, VEGF pathway, and gene silencing. Then, the qualified articles were reviewed.

Results: MicroRNA-126 regulates the response of endothelial cells to VEGF, through directly repressing multiple targets, including Sprouty-related EVH1 domain-containing protein 1 (SPRED1) and phosphoinositol-3 kinase regulatory subunit 2 (PIK3R2/p85-b). MicroRNA-126 -3p and microRNA-126 -5p have cell-type and strandspecific functions and also various targets in angiogenesis that lead to the regulation of angiogenesis via different pathways and consequently diverse responses.

Conclusion: MicroRNA-126 can bind to multiple targets and potentially be both positive and negative regulators of gene expression. Thus, microRNA-126 could cause the opposite biological effects depending on the context. As a result, understanding the different cellular pathways through which microRNA-126 regulates angiogenesis in various situations is a critical aspect in the development of novel and effective treatments for diseases with insufficient angiogenesis.
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http://dx.doi.org/10.2174/1381612826666200504120737DOI Listing
March 2021

Genetic analysis of early onset familial coronary artery diseases.

Arch Med Sci Atheroscler Dis 2019 25;4:e1-e6. Epub 2018 Feb 25.

Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran.

Introduction: Coronary artery diseases (CAD) are the most common causes of death. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in a first-degree relative could be defined as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD.

Material And Methods: In this study, the genetic cause of familial CAD was investigated in patients with a family history of CAD who underwent angiography before the age of 50 years. The patients did not have any diagnostic criteria for familial hypercholesterolemia, diabetes, or obesity, and also they were not opium or alcohol users. Whole exome sequencing in probands was performed and mutation was confirmed by PCR and Sanger sequencing.

Results: In our studied population, the c.501G>C (p.K167N) mutation in the gene was identified in a family. Mutation was confirmed by PCR and Sanger sequencing in the homozygous state (GG) in patients. Healthy individuals in this family were heterozygous (GC) and homozygous (CC).

Conclusions: This finding suggests that the gene could be a possible cause of early onset familial MI. Considering that parents of all affected individuals had a consanguineous marriage, it is important to perform carrier screening and genetic counseling in this family and their close relatives as a prevention strategy in populations at risk.
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http://dx.doi.org/10.5114/amsad.2019.83149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412034PMC
February 2018

Novel mutation in the gene for intellectual disability: A case report and literature review.

Clin Case Rep 2019 Feb 9;7(2):331-335. Epub 2019 Jan 9.

Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.

MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These results expand the clinical and mutation spectrum of MED23 deficiency.
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http://dx.doi.org/10.1002/ccr3.1942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389469PMC
February 2019

Creating cell and animal models of human disease by genome editing using CRISPR/Cas9.

J Gene Med 2019 04 15;21(4):e3082. Epub 2019 Mar 15.

Department of Genetics, Shiraz University of Medical Science, Shiraz, Iran.

A set of unique sequences in bacterial genomes, responsible for protecting bacteria against bacteriophages, has recently been used for the genetic manipulation of specific points in the genome. These systems consist of one RNA component and one enzyme component, known as CRISPR ("clustered regularly interspaced short palindromic repeats") and Cas9, respectively. The present review focuses on the applications of CRISPR/Cas9 technology in the development of cellular and animal models of human disease. Making a desired genetic alteration depends on the design of RNA molecules that guide endonucleases to a favorable genomic location. With the discovery of CRISPR/Cas9 technology, researchers are able to achieve higher levels of accuracy because of its advantages over alternative methods for editing genome, including a simple design, a high targeting efficiency and the ability to create simultaneous alterations in multiple sequences. These factors allow the researchers to apply this technology to creating cellular and animal models of human diseases by knock-in, knock-out and Indel mutation strategies, such as for Huntington's disease, cardiovascular disorders and cancers. Optimized CRISPR/Cas9 technology will facilitate access to valuable novel cellular and animal genetic models with respect to the development of innovative drug discovery and gene therapy.
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http://dx.doi.org/10.1002/jgm.3082DOI Listing
April 2019

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.

BMC Med Genet 2018 05 25;19(1):86. Epub 2018 May 25.

Persian BayanGene Research and Training Center, Dr. Faghihi's Medical Genetics Center, Shiraz, Iran.

Background: Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling. Up to now, 17 types of OI have been reported in which types I to IV are the most frequent cases with autosomal dominant pattern of inheritance.

Case Presentation: Here we report an 8- year- old boy with OI who has had multiple fractures since birth and now he is wheelchair-dependent. To identify genetic cause of OI in our patient, whole exome sequencing (WES) was carried out and it revealed a novel deleterious homozygote splice acceptor site mutation (c.1257-2A > G, IVS7-2A > G) in FKBP10 gene in the patient. Then, the identified mutation was confirmed using Sanger sequencing in the proband as homozygous and in his parents as heterozygous, indicating its autosomal recessive pattern of inheritance. In addition, we performed RT-PCR on RNA transcripts originated from skin fibroblast of the proband to analyze the functional effect of the mutation on splicing pattern of FKBP10 gene and it showed skipping of the exon 8 of this gene. Moreover, Real-Time PCR was carried out to quantify the expression level of FKBP10 in the proband and his family members in which it revealed nearly the full decrease in the level of FKBP10 expression in the proband and around 75% decrease in its level in the carriers of the mutation, strongly suggesting the pathogenicity of the mutation.

Conclusions: Our study identified, for the first time, a private pathogenic splice site mutation in FKBP10 gene and further prove the involvement of this gene in the rare cases of autosomal recessive OI type XI with distinguished clinical manifestations.
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http://dx.doi.org/10.1186/s12881-018-0579-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970456PMC
May 2018

A Candidate Gene Association Study of Bone Mineral Density in an Iranian Population.

Front Endocrinol (Lausanne) 2016 27;7:141. Epub 2016 Oct 27.

Design Trials and Statistics, School of Health and Related Research (ScHARR), The University of Sheffield , Sheffield , UK.

The genetic epidemiology of variation in bone mineral density (BMD) and osteoporosis is not well studied in Iranian populations and needs more research. We report a candidate gene association study of BMD variation in a healthy cross-sectional study of 501 males and females sampled from the Iranian Multi-Centre Osteoporosis Study, Shiraz, Iran. We selected to study the association with 21 single nucleotide polymorphisms (SNPs) located in the 7 candidate genes , and . BMD was measured at the three sites L2-L4, neck of femur, and total hip. Association between BMD and each SNP was assessed using multiple linear regression assuming an allele dose (additive effect) on BMD (adjusted for age and sex). Statistically significant (at the unadjusted 5% level) associations were seen with seven SNPs in five of the candidate genes. Two SNPs showed statistically significant association with more than one BMD site. Significant association was seen between BMD at all the three sites with the SNP rs731246 (L2-L4  = 0.038; neck of femur  = 0.001; and total hip  < 0.001). The T allele was consistently associated with lower BMD than the C allele. Significant association was also seen for the SNP rs3751143, where the G allele was consistently associated with lower BMD than the T allele (L2-L4  = 0.069; neck of femur  = 0.024; and total hip  = 0.045).
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http://dx.doi.org/10.3389/fendo.2016.00141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081477PMC
October 2016

Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection.

Clin Lab 2016 ;62(3):311-6

Background: Phenylketonuria (PKU) is the most common disorder of inborn errors of metabolism. Prevalence of PKU is about 1:10000 live births; however, due to high rate of consanguinity in the Middle East and North of Africa the prevalence of PKU is more than in other areas. It is estimated between 1:2600 in Turkey and 1:3672 in Iran. The best way to identify carriers in PKU families is studying causative mutations, but this approach could be costly and time consuming. As a result, linkage analysis can be considered as a reliable way to detect carriers.

Methods: Ten non-related classical PKU families from Iran-Fars province were enrolled. Linkage analysis was performed through application of highly linked genetic markers to the PAH gene (VNTR, PAHSTR, and XmnI marker) with new designed primers for polymerase chain reaction (PCR). Reliability of approach was assessed by Sanger sequencing, mutation detection, and capillary electrophoresis (CE).

Results: Through application of linkage analysis, nine out of ten families were genotyped successfully. Heterozygosity of chromosome 12 was not detected in any of the enrolled PKU patients. Specificity of new designed primers for linkage analysis was confirmed by Sanger dideoxy sequencing. Results obtained from linkage analysis were confirmed by direct sequencing and detecting causative mutations in half of the genotyped families. All the results were the same as the linkage analysis results. Labeled primers were capable and linkage analysis by CE was successful.

Conclusions: Linkage analysis is a powerful and reliable approach for detecting carriers in PKU families which have not been previously screened for causative mutations. We suggest studying the feasibility of the approach in preliminary diagnosis of PKU and confirming autozygosity of chromosome 12, prenatal diagnosis, and preimplantation genetic testing. Also, we recommend using labeled primers for constructing faithful local PKU associated haplotype databases to provide fast, cheap, and reliable detection of causative mutations in new cases of hyperphenylalaninemia.
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http://dx.doi.org/10.7754/clin.lab.2015.150512DOI Listing
June 2016

Effects of vitamin A, C and E, or omega-3 fatty acid supplementation on the level of paraoxonase and arylesterase activity in streptozotocin-induced diabetic rats: an investigation of activities in plasma, and heart and liver homogenates.

Singapore Med J 2016 Mar;57(3):153-6

Department of Cellular and Molecular Nutrition, School of Nutritional Sciences and Dietetics, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: This study was designed and conducted to evaluate the effects of vitamin A, C and E supplementation, and omega-3 fatty acid supplementation on the activity of paraoxonase and arylesterase in an experimental model of diabetes mellitus.

Methods: A total of 64 male Sprague Dawley® rats, each weighing 250 g, were randomly distributed into four groups: (a) normal control; (b) diabetic control; (c) diabetic with vitamin A, C and E supplementation; and (d) diabetic with omega-3 fatty acid supplementation. The animals were anaesthetised after four weeks of intervention, and paraoxonase and arylesterase activity in blood plasma, and liver and heart homogenates were measured.

Results: Arylesterase activity in the heart and liver homogenates was significantly lower in the diabetic control group than in the normal control group (p < 0.01). Vitamin A, C and E supplementation, and omega-3 fatty acid supplementation significantly increased liver arylesterase activity (p < 0.05). No significant change was observed in paraoxonase activity and other investigated factors.

Conclusion: Vitamin A, C and E, or omega-3 fatty acid supplementation were found to increase liver arylesterase activity in streptozotocin-induced diabetic rats. These supplements may be potential agents for the treatment of diabetes mellitus complications.
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http://dx.doi.org/10.11622/smedj.2015102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800726PMC
March 2016

Evaluation of the Effect of Ascorbic Acid Administration on Gene Expression Level of IL-6 and TNF-α Cytokines in Deceased Donors.

Iran J Allergy Asthma Immunol 2015 Apr;14(2):149-57

Anesthesiology and Critical Care Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

Brain death is associated with increased inflammatory cytokines levels and poor graft quality to transplant. We aimed to evaluate the impact of Ascorbic Acid (AA) on the inflammatory status of Brain-Dead Donors (BDDs). Forty BDDs were randomly divided into two groups. Donor treatment (n=20) consisted of 100 mg/kg AA infusion 6 hours before donor operation and subsequent infusion of 100 mg/kg/p6h until organ removal. Blood samples were taken at three times, 6 hours before donor surgery (TP(1)), immediately after laparotomy (TP(2)), and before organ removal (TP(3)). Gene expression level and serum concentration of IL-6 and TNF-α cytokines were assessed by real-time PCR and ELISA methods. To investigate transplanted liver function, serum values of Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), and Billirubin-Total were evaluated on the 1(st), 3(rd), and 10(th) postoperative days. We found a significant reduction in IL-6 mRNA expression ratio of TP(3) to TP(1) following AA application among BDDs. Despite the considerable decrease in treated donors regarding IL-6 mRNA expression ratio of TP(2) to TP(1), TP(3) to TP(2), and also TNF-α variations in these periods, the results were not significant. Regarding serum concentration of these cytokines, particularly IL-6, there was a decrease between TP(2) and TP(3) following AA application in the treated donors. Furthermore, a significant reduction was found in serum AST and ALT levels in the recipients of treated group on the 3(rd) day compared to the 1(st) day after transplantation. It seems that AA beneficially affects the inflammatory status of BDDs, resulting in improved primary allograft function.
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April 2015

Determining and surveying the role of carnitine and folic acid to decrease fatigue in β-thalassemia minor subjects.

Pediatr Hematol Oncol 2013 Nov 4;30(8):742-7. Epub 2013 Mar 4.

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

Beta-thalassemia minor (BTM) patients usually experience fatigue, bone pain complaint, and muscle weakness. Carnitine is an essential protein for transportation of long-chain fatty acids to the matrix for beta-oxidation. BTM patients have abnormally low plasma carnitine concentrations, which results in deficient ATP production. Carnitine and folic acid together may have a role in preventing bone pain complaint and fatigue in these patients. The aim of this study is to determine the effect of carnitine and folic acid supplementation in subjects with BTM. Seventy three BTM (mean age 11.06 ± 5.46 years) and 23 healthy controls (mean age 8.48 ± 3.78 years) were enrolled in the study. Fasting blood was drawn to determine baseline free and total carnitine levels, red blood cell folate concentration, and hemoglobin level. BTM were divided into three groups and received different types of supplementation for 3 months: Group 1, 50 mg/kg/day carnitine; Group 2, 50 mg/kg/day carnitine plus 1 mg/day folic acid; and Group 3, 1 mg/day folic acid. Controls did not receive supplementation. Laboratory parameters were again evaluated after 3 months' supplementation. A detailed quality of life questionnaire was designed to investigate muscle symptoms before and after supplementation. Free and total plasma carnitine concentration and hemoglobin levels in BTM subjects increased significantly after carnitine supplementation (P < .0001). Bone pain complaint and muscle weakness decreased with carnitine. Red blood cell folate level increased after folic acid supplementation. Carnitine and folic acid supplementation resulted in a decrease in bone pain complaint and muscle weakness in cases with β-thalassemia minor.
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http://dx.doi.org/10.3109/08880018.2013.771388DOI Listing
November 2013
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