New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome

Endocrinol Metab Clin North Am. 2006 Jun;35(2):385-96, x-xi. doi: 10.1016/j.ecl.2006.02.014.

Abstract

The 3243A>G mutation in mitochondrial DNA (mtDNA) is a genetic variant that is associated with a high risk of developing diabetes during life. Enhanced aging of pancreatic beta-cells, a reduced capacity of these cells to synthesize large amounts of insulin,and a resetting of the ATP/ADP-regulated K-channel seem to be the pathogenic factors involved.

Publication types

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

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Deafness / genetics*
  • Deafness / physiopathology
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / physiopathology
  • Female
  • Glucose / metabolism
  • Humans
  • Insulin / physiology
  • Insulin-Secreting Cells / pathology
  • Mitochondria / genetics*
  • Mitochondria / physiology
  • Point Mutation*

Substances

  • DNA, Mitochondrial
  • Insulin
  • Glucose