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Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

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Courtois, Sarah | Angelini, Chloe | Durand, Christelle M. | Dias Amoedo, Nivea | Courreges, Armelle | Dumon, Elodie | Le Quang, Mégane | Goizet, Cyril | Martin-Negrier, Marie-Laure | Rossignol, Rodrigue | Lacombe, Didier | Coupry, Isabelle | Trimouille, Aurelien

Edité par CCSD ; Elsevier -

International audience. 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.

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