The m.13051G>A Mitochondrial DNA Mutation Results in Variable Neurology and Activated Mitophagy

Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Lactic / metabolism
  • Acidosis, Lactic / pathology
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antioxidants / pharmacology
  • Cells, Cultured
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Female
  • Fibroblasts / drug effects
  • Fibroblasts / metabolism
  • Fibroblasts / physiology
  • Humans
  • Infant
  • Infant, Newborn
  • Leigh Disease / metabolism
  • Leigh Disease / pathology
  • Male
  • Microtubule-Associated Proteins / metabolism
  • Middle Aged
  • Mitochondrial Dynamics / genetics
  • Mitochondrial Membrane Transport Proteins / metabolism
  • Mitophagy / drug effects
  • Mitophagy / genetics*
  • Mutation / genetics*
  • Neurology*
  • Ubiquinone / analogs & derivatives
  • Ubiquinone / pharmacology
  • Young Adult

Substances

  • Antioxidants
  • DNA, Mitochondrial
  • Microtubule-Associated Proteins
  • Mitochondrial Membrane Transport Proteins
  • Tom22 protein, human
  • light chain 3, human
  • Ubiquinone
  • idebenone