title: Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
abstract: Among the mitochondrial disorders, complex I deficiencies are encountered frequently. Although some complex I deficiencies have been associated with mitochondrial DNA mutations, in the majority of the complex I-deficient patients mutations of nuclear genes are expected. This review attempts to summarize genetic defects affecting nuclear encoded subunits of complex I reported to date focusing on those found in the NDUFS4 gene. NDUFS4 product is 18 kDa protein which appears to have a dual role in complex I, at least: cAMP-dependent phosphorylation activates the complex; non-sense mutation of NDUFS4 prevents normal assembly of a functional complex in the inner mitochondrial membrane.
authors.affiliation: Department of Medical Biochemistry and Medical Biology, University of Bari, Piazza Giulio Cesare, 70124 Bari, Italy.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Petruzzella
authors.forename: Sergio
authors.initials: S
authors.lastname: Papa
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002467:Cell Nucleus / Q000235:genetics*; D042967:Electron Transport Complex I; D006801:Humans; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D009154:Mutation; D009245:NADH Dehydrogenase; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D021122:Protein Subunits
chemical_list: D021122:Protein Subunits; D009247:NADH, NADPH Oxidoreductases; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C427643:NDUFS4 protein, human