mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome

Science. 2013 Dec 20;342(6165):1524-8. doi: 10.1126/science.1244360. Epub 2013 Nov 14.

Abstract

Mitochondrial dysfunction contributes to numerous health problems, including neurological and muscular degeneration, cardiomyopathies, cancer, diabetes, and pathologies of aging. Severe mitochondrial defects can result in childhood disorders such as Leigh syndrome, for which there are no effective therapies. We found that rapamycin, a specific inhibitor of the mechanistic target of rapamycin (mTOR) signaling pathway, robustly enhances survival and attenuates disease progression in a mouse model of Leigh syndrome. Administration of rapamycin to these mice, which are deficient in the mitochondrial respiratory chain subunit Ndufs4 [NADH dehydrogenase (ubiquinone) Fe-S protein 4], delays onset of neurological symptoms, reduces neuroinflammation, and prevents brain lesions. Although the precise mechanism of rescue remains to be determined, rapamycin induces a metabolic shift toward amino acid catabolism and away from glycolysis, alleviating the buildup of glycolytic intermediates. This therapeutic strategy may prove relevant for a broad range of mitochondrial diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / drug effects
  • Brain / enzymology
  • Brain / pathology
  • Disease Models, Animal
  • Electron Transport Complex I / genetics
  • Electron Transport Complex I / metabolism
  • Glycolysis / drug effects
  • Leigh Disease / drug therapy*
  • Leigh Disease / genetics
  • Leigh Disease / pathology
  • Mechanistic Target of Rapamycin Complex 1
  • Mice
  • Mice, Knockout
  • Mice, Mutant Strains
  • Mitochondria / drug effects
  • Mitochondria / enzymology
  • Mitochondrial Diseases / drug therapy*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Molecular Targeted Therapy*
  • Multiprotein Complexes / antagonists & inhibitors*
  • Neuroprotective Agents / therapeutic use*
  • Sirolimus / therapeutic use*
  • TOR Serine-Threonine Kinases / antagonists & inhibitors*

Substances

  • Multiprotein Complexes
  • Ndufs4 protein, mouse
  • Neuroprotective Agents
  • mTOR protein, mouse
  • Mechanistic Target of Rapamycin Complex 1
  • TOR Serine-Threonine Kinases
  • Electron Transport Complex I
  • Sirolimus