@misc{10481/66663,
year = {2021},
month = {1},
url = {http://hdl.handle.net/10481/66663},
abstract = {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.},
organization = {Andalusian regional government (Grupo de Investigación Junta de Andalucía) 	
CTS113},
publisher = {Mdpi},
keywords = {Papillon–Lefèvre syndrome 1},
keywords = {Mitochondria 2; coenzyme Q10 3},
title = {Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre},
doi = {10.3390/antiox10010095},
author = {Castejón Vega, Beatriz and Quiles Morales, José Luis},
}