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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


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