Blood mononuclear cell coenzyme Q10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients

J Inherit Metab Dis. 2002 Dec;25(8):673-9. doi: 10.1023/a:1022881231253.

Abstract

Coenzyme Q10 (CoQ10) serves as an electron carrier within the mitochondrial respiratory chain (MRC), where it is integrally involved in oxidative phosphorylation and consequently ATP production. It has recently been suggested that phenylketonuria (PKU) patients may be susceptible to a CoQ10 deficiency as a consequence of their phenylalanine-restricted diet, which avoids foods rich in CoQ10 and its precursors. Furthermore, the high phenylalanine level in PKU patients not on dietary restriction may also result in impaired endogenous CoQ10 production, as previous studies have suggested an inhibitory effect of phenylalanine on HMG-CoA reductase, the rate-controlling enzyme in CoQ10 biosynthesis. We investigated the effect of both dietary restriction and elevated plasma phenylalanine concentration on blood mononuclear cell CoQ10 concentration and the activity of MRC complex II + III (succinate:cytochrome-c reductase; an enzyme that relies on endogenous CoQ10) in a PKU patient population. The concentrations of CoQ10 and MRC complex II + III activity were not found to be significantly different between the PKU patients on dietary restriction, PKU patients off dietary restriction and the control group, although plasma phenylalanine levels were markedly different. The results from this investigation suggest that dietary restriction and the elevated plasma phenylalanine levels of PKU patients do not effect mononuclear cell CoQ10 concentration and consequently the activity of complex II + III of the MRC.

Publication types

  • Clinical Trial

MeSH terms

  • Adolescent
  • Adult
  • Chromatography, High Pressure Liquid
  • Citrate (si)-Synthase / blood
  • Coenzymes
  • Female
  • Humans
  • Hydroxymethylglutaryl CoA Reductases / metabolism
  • Male
  • Middle Aged
  • Mitochondrial Diseases / blood
  • Mitochondrial Diseases / diet therapy
  • Mitochondrial Diseases / enzymology*
  • Monocytes / enzymology*
  • Phenylalanine / blood
  • Phenylalanine / metabolism
  • Phenylketonurias / blood
  • Phenylketonurias / enzymology*
  • Succinate Cytochrome c Oxidoreductase / blood*
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / blood*

Substances

  • Coenzymes
  • Ubiquinone
  • Phenylalanine
  • Succinate Cytochrome c Oxidoreductase
  • Hydroxymethylglutaryl CoA Reductases
  • Citrate (si)-Synthase
  • coenzyme Q10