| Literature DB >> 18499082 |
Valeria Massa1, Erika Fernandez-Vizarra, Saad Alshahwan, Eman Bakhsh, Paola Goffrini, Ileana Ferrero, Paolo Mereghetti, Pio D'Adamo, Paolo Gasparini, Massimo Zeviani.
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.Entities:
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Year: 2008 PMID： 18499082 PMCID： PMC2427282 DOI： 10.1016/j.ajhg.2008.05.002
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025