The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness

Eur J Hum Genet. 2001 Dec;9(12):917-21. doi: 10.1038/sj.ejhg.5200742.

Abstract

We have in a longitudinal study determined the proportion of the mitochondrial A3243G mutation in DNA obtained from cervical cell samples collected from three individuals affected with mitochondrial diabetes and hearing loss during a period of up to 18 years. Using the minisequencing method we were able to sensitively determine the proportion between mutant and normal mitochondrial DNA. Our results demonstrate a constant decrease in the levels of the pathogenic mutation in mitotic tissues of affected individuals with time.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aging / genetics*
  • DNA, Mitochondrial / genetics*
  • Deafness / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / physiopathology
  • Epithelial Cells / physiology
  • Epithelial Cells / ultrastructure
  • Female
  • Humans
  • Middle Aged
  • Mitochondria / genetics
  • Point Mutation*
  • Polymorphism, Single Nucleotide

Substances

  • DNA, Mitochondrial