Castejón-Vega, BeatrizBattino, MaurizioQuiles, José L.Bullon, BeatrizCordero, Mario D.Bullón, Pedro2022-09-082022-09-082021-01-12Castejón-Vega B, Battino M, Quiles JL, Bullon B, Cordero MD, Bullón P. Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre. Antioxidants (Basel). 2021 Jan 12;10(1):95http://hdl.handle.net/10668/4019The 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.enAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Papillon–Lefèvre syndromeMitochondriaCoenzyme Q10Enfermedad de Papillon-LefevreMitocondriasUbiquinonaMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Peptide Hydrolases::Cathepsins::Cathepsin CMedical Subject Headings::Chemicals and Drugs::Inorganic Chemicals::Oxygen Compounds::Reactive Oxygen SpeciesMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::MutationMedical Subject Headings::Anatomy::Cells::Connective Tissue Cells::FibroblastsMedical Subject Headings::Phenomena and Processes::Metabolic Phenomena::Metabolism::Oxidative StressMedical Subject Headings::Diseases::Stomatognathic Diseases::Mouth Diseases::Periodontal Diseases::PeriodontitisMedical Subject Headings::Anatomy::Cells::Cellular Structures::Intracellular Space::Cytoplasm::Cytoplasmic Structures::Organelles::MitochondriaMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Drug Therapy::Drug Administration Routes::Administration, TopicalMedical Subject Headings::Phenomena and Processes::Metabolic Phenomena::Oxygen ConsumptionMedical Subject Headings::Technology and Food and Beverages::Food and Beverages::Food::Dietary SupplementsMedical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Mitochondrialresearch article33445524Acceso abierto10.3390/antiox100100952076-3921PMC7827181