Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review

J Pediatr Endocrinol Metab. Mar-Apr 1999;12(2):207-13. doi: 10.1515/jpem.1999.12.2.207.

Abstract

We report a family in which a mother and son were affected with diabetes mellitus and myopathy characterized by ragged red fibers and suggestive of mitochondrial disease. Mitochondrial DNA (mtDNA) analysis of DNA isolated from peripheral blood showed a T-->C point mutation at nucleotide position 14709, in the transfer RNA gene for glutamic acid. We review the association of diabetes and mtDNA mutations. This child's case is unusual because of the early onset of diabetes, which is more typical of mtDNA deletions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Blotting, Southern
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Diabetes Complications*
  • Diabetes Mellitus / genetics
  • Female
  • Humans
  • Male
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / genetics
  • Point Mutation

Substances

  • DNA, Mitochondrial