Genetic basis of maturity-onset diabetes of the young

Endocrinol Metab Clin North Am. 2006 Jun;35(2):371-84, x. doi: 10.1016/j.ecl.2006.02.009.


Most valuable breakthroughs in the genetics of type 2 diabetes mellitus have arisen from familial linkage analysis of maturity-onset diabetes of the young, an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin-secretion defects. Despite its low prevalence, MODY is not a single entity but presents genetic, metabolic, and clinical heterogeneity. MODY can result from mutations in at least six different genes;one encodes the glycolytic enzyme glucokinase, which is an important glucose sensor, whereas all the others encode transcription factors that participate in a regulatory network essential for adult beta cell function. Additional genes, yet unidentified, may explain the other MODY cases unlinked to a mutation in the known genes.

Publication types

  • Review

MeSH terms

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


  • Transcription Factors
  • Glucokinase