Open AccessMissense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
Author(s) -
Nardecchia Francesca,
De Giorgi Agnese,
Palombo Flavia,
Fiorini Claudio,
De Negri Anna M.,
Carelli Valerio,
Caporali Leonardo,
Leuzzi Vincenzo
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51232
Subject(s) - missense mutation , medicine , atrophy , sensorineural hearing loss , gene , mutation , hearing loss , bioinformatics , pathology , genetics , audiology , biology
Abstract CoenzymeQ10 is one of the main cellular antioxidants and an essential lipid involved in numerous cell reactions, such as energy production and apoptosis modulation. A large number of enzymes are involved in CoQ10 biosynthesis. Mutations in the genes encoding for these enzymes cause a CoQ10 deficiency, characterized by neurological and systemic symptoms. Here we describe two young sisters with sensorineural deafness followed by optic atrophy, due to a novel homozygous pathogenic variant in PDSS1 . The visual system seems to be mainly involved when the first steps of CoQ10 synthesis are impaired (PDSS1, PDSS2, and COQ2 deficiency).