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

S Papa; S Scacco; A M Sardanelli; R Vergari; F Papa; S Budde; L van den Heuvel; J Smeitink

doi:10.1016/s0014-5793(00)02334-6

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.

Authors

S Papa¹, S Scacco, A M Sardanelli, R Vergari, F Papa, S Budde, L van den Heuvel, J Smeitink

Affiliation

¹ Department of Medical Biochemistry and Biology, University of Bari, Italy. [email protected]

PMID: 11165261
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