Article (Scientific journals)
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.
Debray, François-Guillaume; Seneca, Sara; GONCE, Michel et al.
2014In Mitochondrion
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Keywords :
Cytochrome c oxidase; Encephalomyopathy; MTCO1; Mitochondrial DNA
Abstract :
[en] Cytochrome c oxidase (COX) deficiency is one of the most common respiratory chain deficiencies. A woman was presented at the age of 18y with acute loss of consciousness, non-convulsive status epilepticus, slow neurological deterioration, transient cortical blindness, exercise intolerance, muscle weakness, hearing loss, cataract and cognitive decline. Muscle biopsy revealed ragged-red fibers, COX negative fibers and a significant decreased activity of complex IV in a homogenate. Using next generation massive parallel sequencing of the mtDNA, a novel heteroplasmic mutation was identified in MTCO1, m.7402delC, causing frameshift and a premature termination codon. Single fiber PCR showed co-segregation of high mutant load in COX negative fibers. Mutation in mitochondrially encoded complex IV subunits should be considered in mitochondrial encephalomyopathies and COX negative fibers after the common mtDNA mutations have been excluded.
Disciplines :
Genetics & genetic processes
Author, co-author :
Debray, François-Guillaume ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Maladies métaboliques d'origine génétique
Seneca, Sara
GONCE, Michel ;  Centre Hospitalier Universitaire de Liège - CHU > Neurologie CHR
Vancampenhaut, Kim
Bianchi, Elettra ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques
BOEMER, François  ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
WEEKERS, Laurent  ;  Centre Hospitalier Universitaire de Liège - CHU > Département de médecine interne > Service de néphrologie
Smet, Joel
Van Coster, Rudy
Language :
English
Title :
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.
Publication date :
2014
Journal title :
Mitochondrion
ISSN :
1567-7249
eISSN :
1872-8278
Publisher :
Elsevier, Netherlands
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2014. Published by Elsevier B.V.
Available on ORBi :
since 08 July 2014

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