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.

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase / Massa, V; FERNANDEZ VIZARRA, E; Alshahwan, S; Bakhsh, E; Goffrini, Paola; FERRERO FORTUNATI, Iliana; Mereghetti, P; D'Adamo, P; Gasparini, P; Zeviani, M.. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 82:6(2008), pp. 1281-1289. [10.1016/j.ajhg.2008.05.002]

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase.

GOFFRINI, Paola;FERRERO FORTUNATI, Iliana;
2008-01-01

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.
2008
Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase / Massa, V; FERNANDEZ VIZARRA, E; Alshahwan, S; Bakhsh, E; Goffrini, Paola; FERRERO FORTUNATI, Iliana; Mereghetti, P; D'Adamo, P; Gasparini, P; Zeviani, M.. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 82:6(2008), pp. 1281-1289. [10.1016/j.ajhg.2008.05.002]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/1815332
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