Inborn and induced defects of mitochondria

Arch Neurol. 1998 Oct;55(10):1293-6. doi: 10.1001/archneur.55.10.1293.

Abstract

Mitochondria play a pivotal role in cellular metabolism and in energy production in particular. Predictably, defects of mitochondrial metabolism have a deleterious effect on cell function and survival, especially in highly energy-dependent tissues such as brain and skeletal muscle. Although a multitude of biochemical reactions occur within mitochondria, the oxidative phosphorylation (OXPHOS) system is the most important in terms of adenosine triphosphate generation and in its association with human disease.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism*
  • Electron Transport / genetics
  • Humans
  • Metabolism, Inborn Errors / diagnosis*
  • Mitochondria / metabolism*
  • Mitochondrial Encephalomyopathies / complications
  • Mitochondrial Encephalomyopathies / genetics*
  • Neurodegenerative Diseases / etiology
  • Oxidative Phosphorylation

Substances

  • DNA, Mitochondrial