Genetics of Diabetes

IR
  • Iwasaki Naoko
    Department of Medicine III, Tokyo Women's Medical University School of Medicine

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Other Title
  • 糖尿病の遺伝素因

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Abstract

We had a significant advantage during recent two decades in identifying the causative mutations and susceptible polymorphisms in genes responsible for the development of diabetes. These findings elucidate the pathogenesis of diabetes mellitus through the functional analysis of those genes. Genetic basis of diabetes mellitus consists of autosomal dominant type younger-onset diabetes including MODY, maternally inherited diabetes due to mitochondrial gene mutation and complex trait disease including both in type 1 and type 2 diabetes mellitus. We describe clinical presentations of MODY and mitochondrial diabetes as well as the identification of KCNJ15 gene as a newly identified type 2 diabetes susceptibility genes. Finally, we show the current status and issues to be solved of genetic counseling in diabetes field for better understanding of a clinical application of genetic test.

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