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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant
American Journal of Medical Genetics, Part A, Volume 167, No. 10, Year 2015
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Description
We report on clinical, genetic and metabolic investigations in a family with optic neuropathy, non-progressive cardiomyopathy and cognitive disability. Ophthalmic investigations (slit lamp examination, funduscopy, OCT scan of the optic nerve, ERG and VEP) disclosed mild or no decreased visual acuity, but pale optic disc, loss of temporal optic fibers and decreased VEPs. Mitochondrial DNA and exome sequencing revealed a novel homozygous mutation in the nuclear MTO1 gene and the homoplasmic m.593T>G mutation in the mitochondrial MT-TF gene. Muscle biopsy analyses revealed decreased oxygraphic Vmax values for complexes I+III+IV, and severely decreased activities of the respiratory chain complexes (RCC) I, III and IV, while muscle histopathology was normal. Fibroblast analysis revealed decreased complex I and IV activity and assembly, while cybrid analysis revealed a partial complex I deficiency with normal assembly of the RCC. Thus, in patients with a moderate clinical presentation due to MTO1 mutations, the presence of an optic atrophy should be considered. The association with the mitochondrial mutation m.593T>G could act synergistically to worsen the complex I deficiency and modulate the MTO1-related disease. © 2015 Wiley Periodicals, Inc.
Authors & Co-Authors
Charif, Majida
France, Montpellier
Institut Des Neurosciences de Montpellier
France, Montpellier
Université de Montpellier
Roubertie, Agathe
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
Desquiret-Dumas, Valérie
France, Angers
Chu Angers
France, Paris
Inserm
Guéguen, Naïg
France, Angers
Chu Angers
France, Paris
Inserm
Meunier, Isabelle Anne
France, Montpellier
Institut Des Neurosciences de Montpellier
France, Montpellier
Université de Montpellier
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
Zanlonghi, Xavier
France, Nantes
Clinique Sourdille
Mercier, Jacques G.
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
France, Paris
Inserm
Procaccio, Vincent
France, Angers
Chu Angers
France, Paris
Inserm
Lenaers, Guy
France, Montpellier
Institut Des Neurosciences de Montpellier
France, Montpellier
Université de Montpellier
Hamel, Christian P.
France, Montpellier
Institut Des Neurosciences de Montpellier
France, Montpellier
Université de Montpellier
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
Statistics
Citations: 20
Authors: 10
Affiliations: 7
Identifiers
Doi:
10.1002/ajmg.a.37188
ISSN:
15524825
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy
Noncommunicable Diseases