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).

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness / Nardecchia, Francesca; De Giorgi, Agnese; Palombo, Flavia; Fiorini, Claudio; De Negri, Anna M; Carelli, Valerio; Caporali, Leonardo; Leuzzi, Vincenzo. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - (2020). [10.1002/acn3.51232]

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

Nardecchia, Francesca
Primo
;
De Giorgi, Agnese
Secondo
;
Leuzzi, Vincenzo
Ultimo
2020

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).
2020
CoenzymeQ10 deficiency; optic atrophy; PDSS1; sensorineural deafness
01 Pubblicazione su rivista::01a Articolo in rivista
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness / Nardecchia, Francesca; De Giorgi, Agnese; Palombo, Flavia; Fiorini, Claudio; De Negri, Anna M; Carelli, Valerio; Caporali, Leonardo; Leuzzi, Vincenzo. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - (2020). [10.1002/acn3.51232]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1465819
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