Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
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DOI：
10.1016/j.ajhg.2008.05.002
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发表时间：
2008-06-01
影响因子：
9.8
通讯作者：
Zeviani, Massimo
中科院分区：
文献类型：
--
作者：
Massa, Valeria;Fernandez-Vizarra, Erika;Zeviani, Massimo
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，这些突变不参与但促进COX的生物发生。核编码结构亚基的突变一直在寻找，但从未在cox缺陷患者中发现，这导致人们猜测它们可能与子宫外生存不相容。我们在其中一个亚基COX6B1中报道了一种与疾病相关的突变。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。
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.