伊朗患者甲基丙二酸血症的基因突变谱
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.
作者信息
Fathi Mohadeseh, Khalilian Sheyda, Miryounesi Mohammad, Ghafouri-Fard Soudeh
机构信息
Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
出版信息
Sci Rep. 2025 May 12;15(1):16389. doi: 10.1038/s41598-025-01563-5.
Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria. While variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes contribute to the pathogenesis of the isolated form, variants in MMACHC, MMADHC, LMBRD1, and ABCD4 genes, are responsible for diverse types of combined MMA and homocystinuria. In the current study, we report molecular tests of 15 Iranian patients who had mutations in MMA-related genes. Among the assessed patients, MMACHC gene was the most prevalently mutated gene (mutated in 7 patients). Each of MMAA, MMAB, and MMUT genes were mutated in 2 patients, respectively. Finally, we detected variants in each of ACSF3 and ABCD4 genes in one case, respectively. Among the identified variants, five variants were not reported before. Cumulatively, the current study provides some data about MMA-related variants among Iranian patients.
甲基丙二酸血症（MMA）的特征是血液和尿液中甲基丙二酸浓度升高。这种病症可以是孤立的，也可以与同型胱氨酸尿症合并出现。虽然MMUT、MMAA、MMAB、MMADHC和MCEE基因的变异导致了孤立型甲基丙二酸血症的发病机制，但MMACHC、MMADHC、LMBRD1和ABCD4基因的变异则是导致多种类型的合并甲基丙二酸血症和同型胱氨酸尿症的原因。在本研究中，我们报告了15名伊朗患者的分子检测结果，这些患者在甲基丙二酸血症相关基因中存在突变。在评估的患者中，MMACHC基因是突变最普遍的基因（7名患者发生突变）。MMAA、MMAB和MMUT基因分别在2名患者中发生突变。最后，我们在1例患者中分别检测到ACSF3和ABCD4基因的变异。在鉴定出的变异中，有5种变异此前未被报道。总体而言，本研究提供了一些关于伊朗患者中甲基丙二酸血症相关变异的数据。
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