Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis

Am J Med Genet. 2002 May 30;115(1):66-70. doi: 10.1002/ajmg.10346.


This study provides a compact overview on the most common form of the maternally inherited diabetes and deafness syndrome (MIDD) that associates with an A-G mutation in mitochondrial DNA at position 3243 in the tRNA(Leu,UUR) gene. The pathobiochemistry and pathophysiology is discussed. The mutation leads predominantly to a reduced insulin secretion by beta cells in response to glucose stimulation, however, without marked involvement of autoimmune processes as seen in type 1 diabetes mellitus. The underlying biochemical mechanism leading to beta cell dysfunction is discussed. Furthermore, the clinical presentation of the disease is summarized as are the methods to detect the A3243G mutation, particular in view of the often low levels of heteroplasm of the A3243G mutation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Deafness / genetics
  • Diabetes Mellitus / genetics
  • Diabetes Mellitus / physiopathology*
  • Humans
  • Mitochondria / genetics
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / physiopathology*
  • Mutation
  • RNA, Transfer / genetics


  • RNA, Transfer