Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

Francesca Nardecchia, Agnese De Giorgi, Flavia Palombo, Claudio Fiorini, Anna M. De Negri, Valerio Carelli, Leonardo Caporali, Vincenzo Leuzzi

Research output: Contribution to journalArticlepeer-review

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).

Original languageEnglish
JournalAnnals of Clinical and Translational Neurology
DOIs
Publication statusAccepted/In press - 2020

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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