由细胞色素c氧化酶的核编码亚基COX6B1突变引起的严重婴儿型脑肌病。
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
作者信息
Massa Valeria, Fernandez-Vizarra Erika, Alshahwan Saad, Bakhsh Eman, Goffrini Paola, Ferrero Ileana, Mereghetti Paolo, D'Adamo Pio, Gasparini Paolo, Zeviani Massimo
机构信息
Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milano, Italy.
出版信息
Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22.
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.
摘要
细胞色素c氧化酶（COX）缺乏是人类最常见的呼吸链缺陷之一，与线粒体DNA基因或核编码蛋白的突变有关，这些蛋白虽不参与COX的组成，但促进其生物合成。人们一直在寻找核编码结构亚基的突变，但在COX缺陷患者中从未发现，这导致推测它们可能与出生后存活不相容。我们报告了其中一个这样的亚基COX6B1中的一种疾病相关突变。应重新考虑核编码的COX基因，并将其纳入与COX缺乏相关的人类疾病的诊断性突变筛查中。
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