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

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 deficienc...

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Autores principales: Nardecchia, Francesca, De Giorgi, Agnese, Palombo, Flavia, Fiorini, Claudio, De Negri, Anna M., Carelli, Valerio, Caporali, Leonardo, Leuzzi, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818083/
https://www.ncbi.nlm.nih.gov/pubmed/33285023
http://dx.doi.org/10.1002/acn3.51232
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author Nardecchia, Francesca
De Giorgi, Agnese
Palombo, Flavia
Fiorini, Claudio
De Negri, Anna M.
Carelli, Valerio
Caporali, Leonardo
Leuzzi, Vincenzo
author_facet Nardecchia, Francesca
De Giorgi, Agnese
Palombo, Flavia
Fiorini, Claudio
De Negri, Anna M.
Carelli, Valerio
Caporali, Leonardo
Leuzzi, Vincenzo
author_sort Nardecchia, Francesca
collection PubMed
description 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).
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spelling pubmed-78180832021-01-29 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 Ann Clin Transl Neurol Brief Communications 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). John Wiley and Sons Inc. 2020-12-07 /pmc/articles/PMC7818083/ /pubmed/33285023 http://dx.doi.org/10.1002/acn3.51232 Text en © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Nardecchia, Francesca
De Giorgi, Agnese
Palombo, Flavia
Fiorini, Claudio
De Negri, Anna M.
Carelli, Valerio
Caporali, Leonardo
Leuzzi, Vincenzo
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
title Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
title_full Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
title_fullStr Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
title_full_unstemmed Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
title_short Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
title_sort missense pdss1 mutations in coenzymeq10 synthesis cause optic atrophy and sensorineural deafness
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818083/
https://www.ncbi.nlm.nih.gov/pubmed/33285023
http://dx.doi.org/10.1002/acn3.51232
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