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Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre

The Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder caused by mutations in the Cathepsin C (CTSC) gene, characterized by periodontitis and palmoplantar hyperkeratosis. The main inflammatory deficiencies include oxidative stress and autophagic dysfunction. Mitochondria are the...

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Autores principales: Castejón-Vega, Beatriz, Battino, Maurizio, Quiles, José L., Bullon, Beatriz, Cordero, Mario D., Bullón, Pedro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827181/
https://www.ncbi.nlm.nih.gov/pubmed/33445524
http://dx.doi.org/10.3390/antiox10010095
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author Castejón-Vega, Beatriz
Battino, Maurizio
Quiles, José L.
Bullon, Beatriz
Cordero, Mario D.
Bullón, Pedro
author_facet Castejón-Vega, Beatriz
Battino, Maurizio
Quiles, José L.
Bullon, Beatriz
Cordero, Mario D.
Bullón, Pedro
author_sort Castejón-Vega, Beatriz
collection PubMed
description The Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder caused by mutations in the Cathepsin C (CTSC) gene, characterized by periodontitis and palmoplantar hyperkeratosis. The main inflammatory deficiencies include oxidative stress and autophagic dysfunction. Mitochondria are the main source of reactive oxygen species; their impaired function is related to skin diseases and periodontitis. The mitochondrial function has been evaluated in PLS and mitochondria have been targeted as a possible treatment for PLS. We show for the first time an important mitochondrial dysfunction associated with increased oxidative damage of mtDNA, reduced CoQ10 and mitochondrial mass and aberrant morphologies of the mitochondria in PLS patients. Mitochondrial dysfunction, determined by oxygen consumption rate (OCR) in PLS fibroblasts, was treated with CoQ10 supplementation, which determined an improvement in OCR and a remission of skin damage in a patient receiving a topical administration of a cream enriched with CoQ10 0.1%. We provide the first evidence of the role of mitochondrial dysfunction and CoQ10 deficiency in the pathophysiology of PLS and a future therapeutic option for PLS.
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spelling pubmed-78271812021-01-25 Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre Castejón-Vega, Beatriz Battino, Maurizio Quiles, José L. Bullon, Beatriz Cordero, Mario D. Bullón, Pedro Antioxidants (Basel) Article The Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder caused by mutations in the Cathepsin C (CTSC) gene, characterized by periodontitis and palmoplantar hyperkeratosis. The main inflammatory deficiencies include oxidative stress and autophagic dysfunction. Mitochondria are the main source of reactive oxygen species; their impaired function is related to skin diseases and periodontitis. The mitochondrial function has been evaluated in PLS and mitochondria have been targeted as a possible treatment for PLS. We show for the first time an important mitochondrial dysfunction associated with increased oxidative damage of mtDNA, reduced CoQ10 and mitochondrial mass and aberrant morphologies of the mitochondria in PLS patients. Mitochondrial dysfunction, determined by oxygen consumption rate (OCR) in PLS fibroblasts, was treated with CoQ10 supplementation, which determined an improvement in OCR and a remission of skin damage in a patient receiving a topical administration of a cream enriched with CoQ10 0.1%. We provide the first evidence of the role of mitochondrial dysfunction and CoQ10 deficiency in the pathophysiology of PLS and a future therapeutic option for PLS. MDPI 2021-01-12 /pmc/articles/PMC7827181/ /pubmed/33445524 http://dx.doi.org/10.3390/antiox10010095 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Castejón-Vega, Beatriz
Battino, Maurizio
Quiles, José L.
Bullon, Beatriz
Cordero, Mario D.
Bullón, Pedro
Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre
title Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre
title_full Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre
title_fullStr Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre
title_full_unstemmed Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre
title_short Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre
title_sort potential role of the mitochondria for the dermatological treatment of papillon-lefèvre
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827181/
https://www.ncbi.nlm.nih.gov/pubmed/33445524
http://dx.doi.org/10.3390/antiox10010095
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