Relations of mitochondrial genetic variants to measures of vascular function

Mitochondrion. 2018 May:40:51-57. doi: 10.1016/j.mito.2017.10.001. Epub 2017 Oct 7.

Abstract

Mitochondrial genetic variation with resultant alterations in oxidative phosphorylation may influence vascular function and contribute to cardiovascular disease susceptibility. We assessed relations of peptide-encoding variants in the mitochondrial genome with measures of vascular function in Framingham Heart Study participants. Of 258 variants assessed, 40 were predicted to have functional consequences by bioinformatics programs. A maternal pattern of heritability was estimated to contribute to the variability of aortic stiffness. A putative association with a microvascular function measure was identified that requires replication. The methods we have developed can be applied to assess the relations of mitochondrial genetic variation to other phenotypes.

Keywords: Mitochondrial genetics; Vascular function.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Aged
  • Cardiovascular Diseases / genetics*
  • Cardiovascular Diseases / physiopathology*
  • Computational Biology
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / genetics*
  • Mitochondria / metabolism*
  • Oxidative Phosphorylation*