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

Evidence is presented showing that in a patient with fatal neurological syn drome, the homozygous 5 by duplication in the cDNA of the NDUFS4 18 kDa sub unit 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. (C) 2001 Federation of European Biochemical Societies. Pub lished by Elsevier Science B.V. All rights reserved.