title: Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
abstract: Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
authors.affiliation: Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milano, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Massa
authors.forename: Erika
authors.initials: E
authors.lastname: Fernandez-Vizarra
authors.forename: Saad
authors.initials: S
authors.lastname: Alshahwan
authors.forename: Eman
authors.initials: E
authors.lastname: Bakhsh
authors.forename: Paola
authors.initials: P
authors.lastname: Goffrini
authors.forename: Ileana
authors.initials: I
authors.lastname: Ferrero
authors.forename: Paolo
authors.initials: P
authors.lastname: Mereghetti
authors.forename: Pio
authors.initials: P
authors.lastname: D'Adamo
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D002467:Cell Nucleus / Q000201:enzymology / Q000235:genetics; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D003576:Electron Transport Complex IV / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005816:Genetic Complementation Test; D006239:Haplotypes; D006367:HeLa Cells; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011487:Protein Conformation; D034622:RNA Interference; D017386:Sequence Homology, Amino Acid
chemical_list: C513775:COX6B1 protein, human; D003576:Electron Transport Complex IV