relation: http://repositorio.uneatlantico.es/id/eprint/579/ canonical: http://repositorio.uneatlantico.es/id/eprint/579/ title: Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome creator: Hamon, Yveline creator: Legowska, Monika creator: Fergelot, Patricia creator: Dallet-Choisy, Sandrine creator: Newell, Louise creator: Vanderlynden, Lise creator: Kord Valeshabad, Ali creator: Acrich, Karina creator: Kord, Hadi creator: Tsamakis, Charalampos creator: Morice-Picard, Fanny creator: Surplice, Ian creator: Zoidakis, Jerome creator: David, Karen creator: Vlahou, Antonia creator: Ragunatha, Shivanna creator: Nagy, Nikoletta creator: Farkas, Katalin creator: Széll, Márta creator: Goizet, Cyril creator: Schacher, Beate creator: Battino, Maurizio creator: Al Farraj Aldosari, Abdullah creator: Wang, Xinwen creator: Liu, Yang creator: Marchand-Adam, Sylvain creator: Lesner, Adam creator: Kara, Elodie creator: Korkmaz-Icöz, Sevil creator: Moss, Celia creator: Eickholz, Peter creator: Taieb, Alain creator: Kavukcu, Salih creator: Jenne, Dieter E. creator: Gauthier, Francis creator: Korkmaz, Brice subject: Biomedicina description: Papillon–Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients. date: 2016 type: Artículo type: PeerReviewed format: text language: en rights: cc_by_4 identifier: http://repositorio.uneatlantico.es/id/eprint/579/1/The%20FEBS%20Journal%20-%202015%20-%20Hamon%20-%20Analysis%20of%20urinary%20cathepsin%20C%20for%20diagnosing%20Papillon%20Lef%20vre%20syndrome.pdf identifier: Artículo Materias > Biomedicina Universidad Europea del Atlántico > Investigación > Producción Científica Abierto Inglés Papillon–Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients. metadata Hamon, Yveline; Legowska, Monika; Fergelot, Patricia; Dallet-Choisy, Sandrine; Newell, Louise; Vanderlynden, Lise; Kord Valeshabad, Ali; Acrich, Karina; Kord, Hadi; Tsamakis, Charalampos; Morice-Picard, Fanny; Surplice, Ian; Zoidakis, Jerome; David, Karen; Vlahou, Antonia; Ragunatha, Shivanna; Nagy, Nikoletta; Farkas, Katalin; Széll, Márta; Goizet, Cyril; Schacher, Beate; Battino, Maurizio; Al Farraj Aldosari, Abdullah; Wang, Xinwen; Liu, Yang; Marchand-Adam, Sylvain; Lesner, Adam; Kara, Elodie; Korkmaz-Icöz, Sevil; Moss, Celia; Eickholz, Peter; Taieb, Alain; Kavukcu, Salih; Jenne, Dieter E.; Gauthier, Francis y Korkmaz, Brice mail SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, maurizio.battino@uneatlantico.es, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR (2016) Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome. FEBS Journal, 283 (3). pp. 498-509. ISSN 1742464X relation: http://doi.org/10.1111/febs.13605 relation: doi:10.1111/febs.13605 language: en