Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

TitleSevere infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
Publication TypeJournal Article
Year of Publication2008
AuthorsMassa, V, Fernandez-Vizarra, E, Alshahwan, S, Bakhsh, E, Goffrini, P, Ferrero, I, Mereghetti, P, D'Adamo, P, Gasparini, P, Zeviani, M
JournalAm J Hum Genet
Volume82
Issue6
Pagination1281-9
Date Published2008 Jun
ISSN1537-6605
KeywordsAmino Acid Sequence, Amino Acid Substitution, Base Sequence, Brain, Brain Diseases, Metabolic, Inborn, Cell Nucleus, Child, Cytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Female, Genetic Complementation Test, Haplotypes, HeLa Cells, Humans, Infant, Magnetic Resonance Imaging, Male, Models, Molecular, Molecular Sequence Data, Pedigree, Point Mutation, Protein Conformation, RNA Interference, Sequence Homology, Amino Acid
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.

DOI10.1016/j.ajhg.2008.05.002
Alternate JournalAm. J. Hum. Genet.
Citation Key10.1016/j.ajhg.2008.05.002
PubMed ID18499082
PubMed Central IDPMC2427282
Grant ListGGP07019 / / Telethon / Italy