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Case Reports
. 2024 Jan;1870(1):166856.
doi: 10.1016/j.bbadis.2023.166856. Epub 2023 Aug 26.

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

Sarah Courtois  1 , Chloé Angelini  2 , Christelle M Durand  2 , Nivea Dias Amoedo  3 , Armelle Courreges  4 , Elodie Dumon  5 , Mégane Le Quang  6 , Cyril Goizet  2 , Marie-Laure Martin-Negrier  6 , Rodrigue Rossignol  7 , Didier Lacombe  8 , Isabelle Coupry  9 , Aurélien Trimouille  10
Affiliations
Free article
Case Reports

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

Sarah Courtois et al. Biochim Biophys Acta Mol Basis Dis. 2024 Jan.
Free article

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. 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.

Keywords: Complex IV; MT-CO2; Mitochondriopathies; NBIA; iron accumulation.

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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