Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study

Brain Dev. 1993 Mar-Apr;15(2):103-6. doi: 10.1016/0387-7604(93)90045-a.

Abstract

We report the ultrastructural and biochemical alterations of muscle mitochondria in two girls with Rett syndrome. Our findings suggest the presence of an energy metabolism impairment the primary or secondary role of which in the pathogenesis of this syndrome cannot be defined at present.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Citrate (si)-Synthase / metabolism
  • Electromyography
  • Electron Transport Complex IV / metabolism
  • Energy Metabolism / physiology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mitochondria, Muscle / enzymology
  • Mitochondria, Muscle / metabolism*
  • Mitochondria, Muscle / ultrastructure*
  • Mitochondrial Encephalomyopathies / diagnostic imaging
  • Mitochondrial Encephalomyopathies / metabolism*
  • Mitochondrial Encephalomyopathies / pathology*
  • Muscles / enzymology
  • Muscles / metabolism*
  • Muscles / pathology*
  • NADH Dehydrogenase / metabolism
  • Neural Conduction / physiology
  • Rett Syndrome / diagnostic imaging
  • Rett Syndrome / metabolism*
  • Rett Syndrome / pathology*
  • Tomography, X-Ray Computed

Substances

  • NADH Dehydrogenase
  • Electron Transport Complex IV
  • Citrate (si)-Synthase

Grants and funding