Decreased Methylation of the Mitochondrial D-Loop Region in Late-Onset Alzheimer's Disease

J Alzheimers Dis. 2017;59(2):559-564. doi: 10.3233/JAD-170139.

Abstract

Mitochondrial impairment is a feature of neurodegeneration and many investigators have suggested that epigenetic modifications of the mitochondrial DNA (mtDNA) might be involved in late-onset Alzheimer's disease (LOAD), but evidence in humans is limited. We assessed the methylation levels of the mtDNA D-loop region in blood DNA from 133 LOAD patients and 130 controls, observing a significant 25% reduction of DNA methylation levels in the first group (2.3 versus 3.1%). Overall, the present data indicate that there is a decreased methylation of the D-loop region in LOAD peripheral blood DNA, suggesting that mtDNA epimutations deserve further investigations in AD pathogenesis.

Keywords: Alzheimer’s disease; D-loop region; DNA methylation; epigenetics; mitochondrial DNA; mtDNA.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Case-Control Studies
  • DNA Methylation / genetics*
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Expression Profiling
  • Gene Regulatory Networks
  • Humans
  • Male
  • Mitochondria / metabolism*
  • Mitochondria / pathology*
  • Peptides, Cyclic / chemistry
  • Peptides, Cyclic / genetics
  • Peptides, Cyclic / metabolism
  • Statistics, Nonparametric
  • Transcriptome

Substances

  • DNA, Mitochondrial
  • Peptides, Cyclic