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Studies of COX16, COX19, and PET191 in Human Cytochrome-c Oxidase Deficiency
Stacey K. H. Tay, MD;
Claudia Nesti, PhD;
Michelangelo Mancuso, MD;
Eric A. Schon, PhD;
Sara Shanske, PhD;
Eduardo Bonilla, MD;
Mercy M. Davidson, PhD;
Salvatore DiMauro, MD
Arch Neurol. 2004;61:1935-1937.
Background Cytochrome-c oxidase (COX) is the terminal enzyme of the mitochondrial electron transport chain, and COX deficiency is a common cause of mitochondrial diseases. Cytochrome-c oxidase is composed of 13 subunits, of which 3 are encoded by mitochondrial DNA and 10 by nuclear DNA. Mutations have been identified in each of the 3 mitochondrial DNA genes but in none of the nuclear DNA genes. However, COX deficiency has been attributed to mutations in several nuclear DNA–encoded ancillary proteins needed for COX assembly and function. Despite this progress, the molecular basis of COX deficiency remains elusive in many patients, justifying the identification and screening of additional COX assembly genes, such as COX16, COX19, and PET191.
Objective To determine if COX16, COX19, and PET191 are implicated in human COX deficiency.
Methods Mutation screening was performed on 53 patients with isolated COX deficiency by direct sequencing of COX19 and by single-strand conformational polymorphism analysis for COX16 and PET191.
Results No mutations were found in COX16, COX19, or PET191 in these patients.
Conclusions The COX16, COX19, and PET191 genes are either not involved or very rarely involved in human COX deficiency. Mutations in additional COX assembly genes remain to be identified.
Author Affiliations: Departments of Neurology (Drs Tay, Nesti, Mancuso, Schon, Shanske, Bonilla, Davidson, and DiMauro), Genetics and Development (Dr Schon), and Pathology (Dr Bonilla), Columbia University College of Physicians and Surgeons, New York, NY.
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Pet191 Is a Cytochrome c Oxidase Assembly Factor in Saccharomyces cerevisiae
Khalimonchuk et al.
Eukaryot Cell 2008;7:1427-1431.
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