Molecular etiologies of MODY and other early-onset forms of diabetes

Curr Diab Rep. 2002 Apr;2(2):125-34. doi: 10.1007/s11892-002-0071-9.


Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease onset, autosomal-dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least eight genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription factors that include hepatocyte nuclear factor (HNF)-4 alpha, HNF-1 alpha, PDX-1, HNF-1 beta, and NEURO-DI/BETA-2. In addition, genetic defects in the glucokinase gene, the glucose sensor of the pancreatic beta cells, and the insulin gene also lead to impaired glucose tolerance. Biochemical and genetic studies have demonstrated that the MODY genes are functionally related and form an integrated transcriptional network that is important for many metabolic pathways.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Age of Onset
  • Diabetes Mellitus, Type 2 / etiology*
  • Diabetes Mellitus, Type 2 / genetics*
  • Humans
  • Mutation
  • Transcription Factors / genetics*


  • Transcription Factors