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، جلد ۱۱، شماره ۱، صفحات ۰-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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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 |
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| 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.
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| کلیدواژه‌های انگلیسی مقاله |
methylmalonic academia, mutation, Iranian population, methylmalonyl-CoA mutase |
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| 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
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| نشانی اینترنتی |
http://rmm.mazums.ac.ir/browse.php?a_code=A-10-850-1&slc_lang=en&sid=1 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
بیولوژی |
| نوع مقاله منتشر شده |
review |
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