#
Publication:

Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome (1997)

Author(s): P. L. Adams;R. N. Lightowlers;D. M. Turnbull

  • : Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

Abstract: Cytochrome c oxidase deficiency is the most common biochemical defect associated with Leigh's syndrome. The genetic defect responsible for this deficiency has not been identified in any patient with Leigh's syndrome. Given that this disorder appears to be inherited as an autosomal recessive trait, this would suggest prima facie that one of the nuclear DNA-encoded cytochrome c oxidase subunits is affected. We report the first detailed sequence analysis of all 10 cytochrome c oxidase nuclear complementary DNAs and the cytochrome c oxidase mitochondrial genes in a Leigh's syndrome patient with cytochrome c oxidase deficiency. No pathological mutations were identified in any of the cytochrome c oxidase structural genes.

Notes: 0364-5134 Journal Article

  • Short Title: Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
  • Date: Feb
  • Journal: Ann Neurol
  • Volume: 41
  • Issue: 2
  • Pages: 268-70
  • Publication type: Article
  • Bibliographic status: Published

Keywords: Adult Base Sequence Electron Transport Complex IV/*metabolism Female Humans Leigh Disease/*metabolism Molecular Sequence Data Research Support, Non-U.S. Gov't

Staff

Professor Robert Lightowlers
Director, ICaMB and Professor of Molecular Neuroscience