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

被引：1

作者：

Courtois, Sarah ^{[1
,8
]}

Angelini, Chloe ^{[3
,4
,5
]}

Durand, Christelle M. ^{[2
,3
,4
]}

Amoedo, Nivea Dias ^{[5
]}

Courreges, Armelle ^{[1
,6
]}

Dumon, Elodie ^{[1
]}

Le Quang, Megane ^{[7
]}

Goizet, Cyril ^{[2
,3
,4
]}

Martin-Negrier, Marie-Laure ^{[7
]}

Rossignol, Rodrigue ^{[1
,5
]}

Lacombe, Didier ^{[1
,3
,5
]}

Coupry, Isabelle ^{[4
]}

Trimouille, Aurelien ^{[1
,2
,7
]}

机构：

[1] Univ Bordeaux, INSERM, U1211, Rare Dis Genet & Metab MRGM, Bordeaux, France

[2] Univ Hosp Bordeaux, Reference Ctr Malad Mitochondriales Enfant Adulte, Bordeaux, France

[3] Univ Hosp Bordeaux, Neurogenet Reference Ctr, Med Genet Serv, Bordeaux, France

[4] Univ Hosp Bordeaux, Med Genet Dept, Bordeaux, France

[5] Univ Bordeaux, CNRS, INCIA, UMR 5287,NRGen Team, F-33000 Bordeaux, France

[6] CELLOMET, Bordeaux, France

[7] Univ Hosp Bordeaux, Pathol Dept, Bordeaux, France

[8] Univ Bordeaux, CHU Bordeaux, Hop Pellegrin, Lab Malad Rares Genet & Metab,INSERM U1211, Pl Amelie Raba Leon, F-33076 Bordeaux, France

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2024年 / 1870卷 / 01期

关键词：

Complex IV; Mitochondriopathies; iron accumulation; NBIA; MT-CO2;

D O I：

10.1016/j.bbadis.2023.166856

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页数：4

共 12 条

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