Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Majida CharifArnaud ChevrollierNaïg GueguenCéline BrisDavid GoudenègeValérie Desquiret-DumasStéphanie LeruezEstelle ColinAudrey MeunierCatherine VignalVasily SmirnovSabine Defoort-DhellemmesIsabelle Drumare BouvetCyril GoizetMarcela VotrubaNeringa JurkutePatrick Yu-Wai-ManFrancesca TagliaviniLeonardo CaporaliChiara La MorgiaValerio CarelliVincent ProcaccioXavier ZanlonghiIsabelle MeunierPascal ReynierDominique BonneauPatrizia Amati-BonneauGuy LenaersPublished in: Neurology. Genetics (2020)
Our results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology.