Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
ANGELINI, Chloe
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
DURAND, Christelle M.
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
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Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
ANGELINI, Chloe
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
DURAND, Christelle M.
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
MARTIN-NEGRIER, Marie-Laure
Institut des Maladies Neurodégénératives [Bordeaux] [IMN]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Institut des Maladies Neurodégénératives [Bordeaux] [IMN]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
ROSSIGNOL, Rodrigue
Université de Bordeaux [UB]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Université de Bordeaux [UB]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
LACOMBE, Didier
Hôpital Pellegrin
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Hôpital Pellegrin
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
TRIMOUILLE, Aurelien
Hôpital Pellegrin
Service de génétique médicale
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
< Reduce
Hôpital Pellegrin
Service de génétique médicale
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Language
EN
Article de revue
This item was published in
Biochimica et Biophysica Acta - Molecular Basis of Disease. 2023-08-26, vol. 1870, n° 1, p. 166856
English Abstract
Mitochondrial diseases are genetic disorders impairing mitochondrial functions. Here we describe a patient with a neurodegenerative condition associated with myopia, bilateral sensorineural hearing loss and motor disorders. ...Read more >
Mitochondrial diseases are genetic disorders impairing mitochondrial functions. Here we describe a patient with a neurodegenerative condition associated with myopia, bilateral sensorineural hearing loss and motor disorders. Brain MRIs showed major cortico-subcortical and infra-tentorial atrophies, as well as intracerebral iron accumulation and central calcifications, compatible with a NBIA-like phenotype. Mitochondrial DNA analysis revealed an undescribed variant: m.8091G>A in the MT-CO2 gene, associated with a complex IV deficiency and a decrease of the mitochondrial respiratory chain capabilities. We report here this pathogenic variant, associated with a NBIA-like phenotype.Read less <
English Keywords
Complex IV
Mitochondriopathies
Iron accumulation
NBIA
MT-CO2