title: Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
abstract: 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.
authors.affiliation: Departments of Neurology, Genetics and Development, and Pathology, Columbia University College of Physicians and Surgeons, 630 W. 168th Street, New York, NY 10032, USA.
authors.forename: Stacey K H
authors.initials: SK
authors.lastname: Tay
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Eric A
authors.initials: EA
authors.lastname: Schon
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bonilla
authors.forename: Mercy M
authors.initials: MM
authors.lastname: Davidson
authors.forename: Salvatore
authors.initials: S
authors.lastname: Dimauro
mesh_terms: D002648:Child; D030401:Cytochrome-c Oxidase Deficiency / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000201:enzymology; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D021122:Protein Subunits / Q000235:genetics* / Q000378:metabolism; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C472291:COX16 protein, S cerevisiae; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D021122:Protein Subunits; D029701:Saccharomyces cerevisiae Proteins