Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation

Muscle Nerve Suppl. 1995;3:S124-30. doi: 10.1002/mus.880181425.

Abstract

We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNA(Leu)(UUR) gene in a large Dutch pedigree with maternally inherited diabetes mellitus and deafness (MIDD) illustrating the importance of mitochondrial function in maintenance of a proper glucose homeostasis. In this review we will focus on the prevalence of the mtDNA mutation at np 3243 in diabetic populations, as well as postulate some working models for its pathogenicity.

Publication types

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

MeSH terms

  • Base Sequence
  • DNA, Mitochondrial / genetics
  • Deafness / complications
  • Deafness / genetics*
  • Diabetes Complications
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / metabolism
  • Glucose / physiology
  • Humans
  • Insulin / metabolism
  • Mitochondria / physiology*
  • Molecular Sequence Data
  • Mothers*
  • Pedigree
  • Phenotype
  • Point Mutation*
  • RNA, Transfer, Leu / genetics*

Substances

  • DNA, Mitochondrial
  • Insulin
  • RNA, Transfer, Leu
  • Glucose