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Research in Molecular Medicine، جلد ۱۱، شماره ۱، صفحات ۰-۰
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عنوان انگلیسی Gene Frequencies of Methylmalonic Acidemia Disease at the Global Level and Compiling the Pathogenic Mutations in the Iranian Population
چکیده انگلیسی مقاله Background: Methylmalonic Acidemia (MMA) is a rare autosomal recessive metabolic disorder, resulting from a genetic defect in methylmalonyl-CoA mutase (MCM) or a defect in the biosynthesis of its cofactor, adenosyl-cobalamin (AdoCbl). This disease is caused by a mutation in six main genes (MUT, MMAA, MMAB, MMADHC, MMACHC, and MCEE). In this study, we estimate MMA-disease genes frequencies at the global level and present so far reported MMA causative mutations in the Iranian population.
Materials and Methods:Human Gene Mutation Database (HGMD) has been utilized to estimate MMA-disease genes frequencies. To compile MMA mutations, we systematically reviewed PubMed and magiran databases to find related articles in English and Persian language, respectively.
Results: The frequencies of causative genes among MMA patients at the global level were: MUT (64.14%), MMACHC (17.74%), MMAA (13.48%), MMAB (7.1%), MMADHC (2.9%) and MCEE (0.85%), respectively. Until 30th August 2023, eighteen MMA mutations were collected from the Iranian population of which 9 mutations have been only identified in Iran and were not reported in other populations yet.
Conclusions: Collection and recognition of MMA mutations in the Iranian population can be helpful for early diagnosis and treatment before the onset of neurological symptoms in newborns.
 
کلیدواژه‌های انگلیسی مقاله methylmalonic academia, mutation, Iranian population, methylmalonyl-CoA mutase
نویسندگان مقاله | Ghazaleh Malekizadeh
Department of Molecular and Cell Biology, Faculty of Science, University of Mazandaran, Babolsar, Iran


| Omid Jazayeri
Department of Molecular and Cell Biology, Faculty of Science, University of Mazandaran, Babolsar, Iran


| Morteza Alijanpour
Non-communicable pediatric Disease Research Center, Health Research Institute, Babol University of Medical Science, Babol, Iran


| Majid Tafrihi
Department of Molecular and Cell Biology, Faculty of Science, University of Mazandaran, Babolsar, Iran
نشانی اینترنتی http://rmm.mazums.ac.ir/browse.php?a_code=A-10-850-1&slc_lang=en&sid=1
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زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده بیولوژی
نوع مقاله منتشر شده review
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