Heteroplasmy of the human mtDNA control region remains constant during life

Am J Hum Genet. 2001 May;68(5):1299-301. doi: 10.1086/320115. Epub 2001 Mar 26.

Abstract

In a longitudinal, retrospective study, we monitored the level of heteroplasmy at nucleotide position (nt) 309 and nt 16189 of the control region of human mtDNA. As a unique source of DNA, we analyzed multiple cervical-cell samples collected, during 1 or 2 decades, from four women with heteroplasmy at either nt 309 or nt 16189. According to accurate, quantitative analysis by solid-phase minisequencing, the level of heteroplasmy remained stable in the cervical-cell samples from all four women during the time studied. We also analyzed autopsy samples from several different tissues, all containing nt 309 in heteroplasmic form, of one of the women, who was deceased. On the basis of our results, heteroplasmy in the control region of mtDNA seems to be inherited and is not the result of somatic age-related accumulation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autopsy
  • Cervix Uteri / cytology
  • Cervix Uteri / metabolism
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Longitudinal Studies
  • Point Mutation / genetics*
  • Regulatory Sequences, Nucleic Acid / genetics*
  • Retrospective Studies

Substances

  • DNA, Mitochondrial