[Analysis of Heteroplasmy in the Major Noncoding Region of Mitochondrial DNA in the Blood and Atherosclerotic Plaques of Carotid Arteries]

Genetika. 2016 Apr;52(4):497-502.
[Article in Russian]

Abstract

For identification of somatic mitochondrial DNA (mtDNA) mutations, the mtDNA major noncoding region (D-loop) sequence in blood samples and carotid atherosclerosis plaques from patients with atherosclerosis was analyzed. Five point heteroplasmic positions were observed in 4 of 23 individuals (17%). Only in two cases could heteroplasmy have resulted from somatic mutation, whereas three heteroplasmic positions were found in both vascular tissue and blood. In addition, length heteroplasmy in a polycytosine stretches was registered at nucleotide positions 303-315 in 16 individuals, and also in the 16184-16193 region--in four patients. The results suggest that somatic mtDNA mutations can occur during atherosclerosis, but some heteroplasmic mutations may appear in all tissues, possibly being inherited.

Publication types

  • English Abstract

MeSH terms

  • Aged
  • Atherosclerosis / genetics*
  • Carotid Arteries / pathology*
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / genetics
  • Plaque, Atherosclerotic / blood
  • Plaque, Atherosclerotic / genetics*
  • Plaque, Atherosclerotic / pathology
  • Point Mutation / genetics
  • Polymorphism, Single Nucleotide

Substances

  • DNA, Mitochondrial