上海交通大学学报（医学版）

上海交通大学学报（医学版）

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MafA基因突变/变异与糖尿病的研究进展

葛晓旭， 刘丽梅   

  1. 上海交通大学附属第六人民医院内分泌代谢科， 上海市糖尿病研究所， 上海 200233
  • 出版日期:2016-10-28 发布日期:2016-11-29
  • 作者简介:葛晓旭（1991—）， 女， 硕士生； 电子信箱： gexiaoxu1103@163.com。
  • 基金资助:

    国家自然科学基金(81471012,81270876,30771022)；上海市科委优秀学科带头人基金（10XD1403400)；上海交通大学医学院教育研究课题（YB150612）

Research progresses of MafA gene mutations/variations and diabetes mellitus

GE Xiao-xu, LIU Li-mei   

  1. Department of Endocrinology and Metabolism， Shanghai Diabetes Institute， Shanghai Sixth Peoples Hospital， Shanghai Jiao Tong University， Shanghai 200233， China
  • Online:2016-10-28 Published:2016-11-29
  • Supported by:

    National Nature Science Foundation of China,81471012,81270876,30771022; Program of Shanghai Subject Chief Scientist,10XD1403400; Program of Education Research from Shanghai Jiao Tong University of Medicine，YB150612

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摘要：

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。

关键词: 肌腱膜纤维肉瘤癌基因同源物A, 胰岛素基因, 突变, 变异, 糖尿病

Abstract:

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.

Key words: v-maf musculoaponeurotic fibrosarcoma oncogene homolog A, insulin gene, mutation, variation, diabetes mellitus