Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA

Horm Metab Res. 1997 Feb;29(2):50-5. doi: 10.1055/s-2007-978984.

Abstract

Diabetes mellitus is a common disease with variations in its clinical expression and different modes of pathogenesis. The purpose of this review is to discuss a recently identified diabetic subtype. Based on the triad diabetes, maternal inheritance and impaired hearing in this subtype we have proposed the name Maternally Inherited Diabetes and Deafness (MIDD). This diabetic subtype associates in the vast majority of cases with a single mutation in mitochondrial DNA, at position 3243. The clinical presentation of MIDD which can be IDDM-like or NIDDM-like, its frequency of occurrence, possible pathogenic mechanisms and the contribution of other mitochondrial DNA mutations to the development of diabetes will be discussed.

Publication types

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

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Deafness / complications
  • Deafness / genetics*
  • Diabetes Complications
  • Diabetes Mellitus / classification
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Humans
  • Point Mutation*

Substances

  • DNA, Mitochondrial