Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

  • Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002.
Valeria Massa  1 ,  Erika Fernandez-Vizarra ,  Saad Alshahwan ,  Eman Bakhsh ,  Paola Goffrini ,  Ileana Ferrero ,  Paolo Mereghetti ,  Pio D'Adamo ,  Paolo Gasparini ,  Massimo Zeviani
Affiliations
  • 1. Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milano, Italy.
PMID: 18499082 DOI: 10.1016/j.ajhg.2008.05.002
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.