Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation

FEBS Lett. 2000 Feb 18;468(1):1-5. doi: 10.1016/s0014-5793(00)01083-8.

Abstract

A critical analysis of the literature of mitochondrial disorders reveals that genetic diseases of oxidative phosphorylation are often associated with impaired beta-oxidation, and vice versa, and preferentially affect brain, retina, heart and skeletal muscle, tissues which depend on docosahexaenoic (22:6n-3)-containing phospholipids for functionality. Evidence suggests that an increased NADH/NAD(+) ratio generated by reduced flux through the respiratory chain inhibits beta-oxidation, producing secondary carnitine deficiency while increasing reactive oxygen species and depleting alpha-tocopherol (alpha-TOC). These events result in impairment of the recently elucidated mitochondrial pathway for synthesis of 22:6n-3-containing phospholipids, since carnitine and alpha-TOC are involved in their biosynthesis. Therapeutic supplementation with 22:6n-3 and alpha-TOC is suggested.

Publication types

  • Review

MeSH terms

  • Animals
  • Carnitine / deficiency*
  • Disease Models, Animal
  • Docosahexaenoic Acids / metabolism*
  • Docosahexaenoic Acids / therapeutic use
  • Humans
  • Metabolism, Inborn Errors / diet therapy
  • Metabolism, Inborn Errors / physiopathology*
  • Mice
  • Mice, Knockout
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Mitochondrial Encephalomyopathies / diet therapy
  • Mitochondrial Encephalomyopathies / physiopathology
  • Neuronal Ceroid-Lipofuscinoses / diet therapy
  • Neuronal Ceroid-Lipofuscinoses / physiopathology
  • Oxidation-Reduction
  • Oxidative Phosphorylation*
  • Phospholipids / biosynthesis
  • Vitamin E / metabolism
  • Vitamin E / therapeutic use

Substances

  • Phospholipids
  • Vitamin E
  • Docosahexaenoic Acids
  • Carnitine