Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells

Ann Neurol. 2004 Nov;56(5):662-9. doi: 10.1002/ana.20240.

Abstract

Impairment of mitochondrial energy metabolism has been associated with a wide range of human disorders. Large-scale partial deletions of mitochondrial DNA (mtDNA) cause sporadic Kearns-Sayre syndrome, a fatal multisystem disorder, in which the majority of mtDNAs in affected tissues have deletions (Delta-mtDNAs). Since most mtDNA-related diseases, including Kearns-Sayre syndrome, are recessive, only a few wild-type mtDNAs can compensate for the deleterious effects of many Delta-mtDNAs. We have developed a pharmacological approach to reduce the proportion of Delta-mtDNAs in vitro, in which we grow cells in medium containing ketone bodies, replacing glucose as the carbon source. Cells containing 100% Delta-mtDNA died after 5 days of treatment, whereas those containing 100% wild-type mtDNA survived. Furthermore, in a cloned heteroplasmic cell line, the proportion of wild-type mtDNA increased from 13% initially to approximately 22% after 5 days in ketogenic medium and was accompanied by a dramatic improvement in mitochondrial protein synthesis. We also present evidence that treatment with ketone bodies caused "heteroplasmic shifting" not only among cells (ie, intercellular selection) but also within cells (ie, intracellular selection). The demonstration that ketone bodies can distinguish between normal and respiratorily compromised cells points to the potential use of a ketogenic diet to treat patients with heteroplasmic mtDNA disorders.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3-Hydroxybutyric Acid / therapeutic use*
  • Blotting, Southern / methods
  • Cell Proliferation
  • Cells, Cultured
  • Cyclooxygenase 2
  • DNA, Mitochondrial / genetics*
  • Gene Deletion*
  • Humans
  • Immunohistochemistry / methods
  • In Situ Hybridization, Fluorescence / methods
  • Isoenzymes / metabolism
  • Kearns-Sayre Syndrome / drug therapy*
  • Kearns-Sayre Syndrome / genetics
  • Membrane Proteins
  • Models, Biological
  • Muscles / cytology
  • Muscles / drug effects*
  • Prostaglandin-Endoperoxide Synthases / metabolism
  • Time Factors

Substances

  • DNA, Mitochondrial
  • Isoenzymes
  • Membrane Proteins
  • Cyclooxygenase 2
  • PTGS2 protein, human
  • Prostaglandin-Endoperoxide Synthases
  • 3-Hydroxybutyric Acid