Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre
Artículo Materias > Biomedicina Universidad Europea del Atlántico > Investigación > Artículos y libros Abierto Inglés 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. metadata Castejón-Vega, Beatriz; Battino, Maurizio; Quiles, José L.; Bullon, Beatriz; Cordero, Mario D. y Bullón, Pedro mail SIN ESPECIFICAR, SIN ESPECIFICAR, jose.quiles@uneatlantico.es, SIN ESPECIFICAR, jose.quiles@uneatlantico.es, SIN ESPECIFICAR (2021) Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre. Antioxidants, 10 (1). p. 95. ISSN 2076-3921
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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.
| Tipo de Documento: | Artículo |
|---|---|
| Palabras Clave: | Papillon–Lefèvre syndrome, Mitochondria, Coenzyme Q10. |
| Clasificación temática: | Materias > Biomedicina |
| Divisiones: | Universidad Europea del Atlántico > Investigación > Artículos y libros |
| Depositante: | Usuarios 0 no encontrado. |
| Depositado: | 01 Jun 2021 23:55 |
| Ultima Modificación: | 07 Jul 2023 23:30 |
| URI: | https://repositorio.uneatlantico.es/id/eprint/104 |
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- Castejón-Vega, Beatriz; Battino, Maurizio; Quiles, José L.; Bullon, Beatriz; Cordero, Mario D. y Bullón, Pedro Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre. (deposited 01 Jun 2021 23:55) [Mostrada Ahora]
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