[From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)]

Ned Tijdschr Geneeskd. 2001 Jun 16;145(24):1153-4.
[Article in Dutch]

Abstract

MIDD is a maternally inherited disorder with diabetes and impaired hearing due to a reduced perception of high tones. The disorder is caused by an A to G mutation at position 3243 in mitochondrial DNA. Approximately 1.3% of insulin-dependent diabetic patients in the Netherlands has this mutation. The main defect in these patients seems to be a reduced secretion of insulin by the pancreas in response to glucose stimulation.

Publication types

  • Review

MeSH terms

  • Adenine / metabolism
  • Adult
  • DNA, Mitochondrial / genetics*
  • Deafness / epidemiology
  • Deafness / genetics*
  • Diabetes Complications
  • Diabetes Mellitus / epidemiology
  • Diabetes Mellitus / genetics*
  • Female
  • Guanine / metabolism
  • Hearing Loss, High-Frequency / epidemiology
  • Hearing Loss, High-Frequency / genetics*
  • Humans
  • Insulin / metabolism*
  • Insulin Secretion
  • Male
  • Mutation / genetics*
  • Netherlands / epidemiology
  • Pancreas / metabolism
  • Prevalence
  • RNA, Transfer / genetics

Substances

  • DNA, Mitochondrial
  • Insulin
  • Guanine
  • RNA, Transfer
  • Adenine