MafA基因突变/变异与糖尿病的研究进展
Research progresses of MafA gene mutations/variations and diabetes mellitus

肌腱膜纤维肉瘤癌基因同源物A（MafA）是成熟胰岛β细胞的重要转录因子，对胰岛素基因的转录、胰岛素分泌和β细胞团的增殖、分化至关重要。MafA与PDX-1和NeuroD1/BETA2协同作用，在胰岛β细胞和非胰岛β细胞中可诱导胰岛素基因的表达，有望成为糖尿病潜在的治疗靶点。在糖尿病小鼠模型和糖尿病患者的研究中发现，MafA基因缺陷可导致糖耐量异常和糖尿病的发生。人类MafA基因突变/变异可能与特殊类型糖尿病如新生儿糖尿病（NDM）或青少年成人起病型糖尿病（MODY）的致病及1型或2型糖尿病易感性的增加相关。
： V-maf musculoaponeurotic fibrosarcoma oncogene homolog A (MafA) is an important transcription factor of mature pancreatic islet β-cells, which is essential for insulin gene transcription, insulin secretion, and proliferation and differentiation of β-cell mass. MafA, together with PDX-1 and NeuroD1/BETA2, can synergistically induce insulin gene expression in islet β-cells and non-islet β-cells, which is expected to be a potential therapeutic target for the treatment of diabetes. Studies have shown that genetic deficiency of MafA gene in diabetic mouse models and diabetic patients can cause impaired glucose tolerance and the occurrence of diabetes. Mutations/variations of human MafA gene may be associated with the pathogenesis of special types of diabetes such as neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY), and the increased susceptibility to type 1 or type 2 diabetes mellitus