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Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene

Mkaouar-Rebai, Emna; Ellouze, Emna; Chamkha, Imen LU ; Kammoun, Fatma; Triki, Chahnez and Fakhfakh, Faiza (2011) In Journal of Child Neurology 26(1). p.12-20
Abstract

Cytochrome c oxidase is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. In this study, the authors report the second mutation associated with Leigh syndrome in the blood and buccal mucosa of 2 affected members of a Tunisian family. It was a novel heteroplasmic missense mitochondrial mutation at nucleotide 9478 in the gene specifying subunit III of cytochrome c oxidase substituting the valine at position 91 to alanine in a highly conserved amino acid. It was found with a high mutant load in tissues derived from endoderm (buccal mucosa) and mesoderm (blood). However, it was nearly absent in tissue derived from ectoderm (hair follicles). It was absent... (More)

Cytochrome c oxidase is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. In this study, the authors report the second mutation associated with Leigh syndrome in the blood and buccal mucosa of 2 affected members of a Tunisian family. It was a novel heteroplasmic missense mitochondrial mutation at nucleotide 9478 in the gene specifying subunit III of cytochrome c oxidase substituting the valine at position 91 to alanine in a highly conserved amino acid. It was found with a high mutant load in tissues derived from endoderm (buccal mucosa) and mesoderm (blood). However, it was nearly absent in tissue derived from ectoderm (hair follicles). It was absent in 120 healthy controls, and PolyPhen analysis showed that the hydropathy index changed from +1.276 to +0.242, and the number of structures of the 3D protein decreased from 39 to 32.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
DNA Mutational Analysis, Electron Transport Complex IV, Female, Humans, Leigh Disease, Male, Mutation, Missense, Pedigree
in
Journal of Child Neurology
volume
26
issue
1
pages
9 pages
publisher
SAGE Publications Inc.
external identifiers
  • Scopus:78651329718
ISSN
1708-8283
DOI
10.1177/0883073810371227
language
English
LU publication?
no
id
59d8e8d5-e870-4287-92b1-4793efbcfc40
date added to LUP
2016-09-14 13:42:33
date last changed
2016-10-13 05:13:31
@misc{59d8e8d5-e870-4287-92b1-4793efbcfc40,
  abstract     = {<p>Cytochrome c oxidase is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. In this study, the authors report the second mutation associated with Leigh syndrome in the blood and buccal mucosa of 2 affected members of a Tunisian family. It was a novel heteroplasmic missense mitochondrial mutation at nucleotide 9478 in the gene specifying subunit III of cytochrome c oxidase substituting the valine at position 91 to alanine in a highly conserved amino acid. It was found with a high mutant load in tissues derived from endoderm (buccal mucosa) and mesoderm (blood). However, it was nearly absent in tissue derived from ectoderm (hair follicles). It was absent in 120 healthy controls, and PolyPhen analysis showed that the hydropathy index changed from +1.276 to +0.242, and the number of structures of the 3D protein decreased from 39 to 32.</p>},
  author       = {Mkaouar-Rebai, Emna and Ellouze, Emna and Chamkha, Imen and Kammoun, Fatma and Triki, Chahnez and Fakhfakh, Faiza},
  issn         = {1708-8283},
  keyword      = {DNA Mutational Analysis,Electron Transport Complex IV,Female,Humans,Leigh Disease,Male,Mutation, Missense,Pedigree},
  language     = {eng},
  number       = {1},
  pages        = {12--20},
  publisher    = {ARRAY(0x9b35650)},
  series       = {Journal of Child Neurology},
  title        = {Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene},
  url          = {http://dx.doi.org/10.1177/0883073810371227},
  volume       = {26},
  year         = {2011},
}