Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
Francesca NardecchiaAgnese De GiorgiFlavia PalomboClaudio FioriniAnna M De NegriValerio CarelliLeonardo CaporaliVincenzo LeuzziPublished in: Annals of clinical and translational neurology (2020)
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).
Keyphrases
- hearing loss
- optical coherence tomography
- oxidative stress
- single cell
- optic nerve
- cell therapy
- replacement therapy
- cell death
- stem cells
- fatty acid
- mesenchymal stem cells
- bone marrow
- transcription factor
- cell proliferation
- subarachnoid hemorrhage
- signaling pathway
- cell wall
- gene expression
- blood brain barrier
- bioinformatics analysis
- smoking cessation