[MODY, a model of genotype/phenotype interactions in type 2 diabetes]

Med Sci (Paris). 2003 Aug-Sep;19(8-9):854-9. doi: 10.1051/medsci/20031989854.
[Article in French]

Abstract

Maturity onset diabetes of the young (MODY) is a subtype of familial diabetes mellitus characterised by early onset, autosomal dominant inheritance and primary defects of insulin secretion. Mutations in six known genes (the enzyme glucokinase and five transcription factors expressed in pancreatic beta-cells) cause most of the MODY cases. This genetic heterogeneity is associated with metabolic and clinical heterogeneity making MODY an interesting model of genotype/phenotype interaction in diabetes.

Publication types

  • English Abstract
  • Review

MeSH terms

  • DNA-Binding Proteins*
  • Diabetes Mellitus, Type 2 / genetics*
  • Glucokinase / genetics
  • Hepatocyte Nuclear Factor 1
  • Hepatocyte Nuclear Factor 1-alpha
  • Hepatocyte Nuclear Factor 1-beta
  • Humans
  • Mutation
  • Nuclear Proteins*
  • Phenotype*
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • HNF1A protein, human
  • HNF1B protein, human
  • Hepatocyte Nuclear Factor 1-alpha
  • Nuclear Proteins
  • Transcription Factors
  • Hepatocyte Nuclear Factor 1
  • Hepatocyte Nuclear Factor 1-beta
  • Glucokinase