Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome

FEBS Lett. 2001 Feb 2;489(2-3):259-62. doi: 10.1016/s0014-5793(00)02334-6.

Abstract

Evidence is presented showing that in a patient with fatal neurological syndrome, the homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I abolishes cAMP-dependent phosphorylation of this protein and activation of the complex. These findings show for the first time that human complex I is regulated via phosphorylation of the subunit encoded by the NDUFS4 gene.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Cells, Cultured
  • Cyclic AMP / physiology*
  • Electron Transport Complex I
  • Enzyme Activation
  • Fatal Outcome
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Leigh Disease / enzymology*
  • Leigh Disease / genetics
  • Leigh Disease / pathology
  • Male
  • Molecular Sequence Data
  • Mutation
  • NADH, NADPH Oxidoreductases / deficiency*
  • NADH, NADPH Oxidoreductases / genetics
  • NADH, NADPH Oxidoreductases / metabolism
  • Phosphorylation
  • Protein Subunits
  • Sequence Homology, Amino Acid

Substances

  • Protein Subunits
  • Cyclic AMP
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I