eprintid: 579 rev_number: 7 eprint_status: archive userid: 2 dir: disk0/00/00/05/79 datestamp: 2022-03-17 23:55:09 lastmod: 2022-03-17 23:55:10 status_changed: 2022-03-17 23:55:09 type: article metadata_visibility: show creators_name: Hamon, Yveline creators_name: Legowska, Monika creators_name: Fergelot, Patricia creators_name: Dallet-Choisy, Sandrine creators_name: Newell, Louise creators_name: Vanderlynden, Lise creators_name: Kord Valeshabad, Ali creators_name: Acrich, Karina creators_name: Kord, Hadi creators_name: Tsamakis, Charalampos creators_name: Morice-Picard, Fanny creators_name: Surplice, Ian creators_name: Zoidakis, Jerome creators_name: David, Karen creators_name: Vlahou, Antonia creators_name: Ragunatha, Shivanna creators_name: Nagy, Nikoletta creators_name: Farkas, Katalin creators_name: Széll, Márta creators_name: Goizet, Cyril creators_name: Schacher, Beate creators_name: Battino, Maurizio creators_name: Al Farraj Aldosari, Abdullah creators_name: Wang, Xinwen creators_name: Liu, Yang creators_name: Marchand-Adam, Sylvain creators_name: Lesner, Adam creators_name: Kara, Elodie creators_name: Korkmaz-Icöz, Sevil creators_name: Moss, Celia creators_name: Eickholz, Peter creators_name: Taieb, Alain creators_name: Kavukcu, Salih creators_name: Jenne, Dieter E. creators_name: Gauthier, Francis creators_name: Korkmaz, Brice creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: maurizio.battino@uneatlantico.es creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: creators_id: title: Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome ispublished: pub subjects: uneat_bm divisions: uneatlantico_produccion_cientifica full_text_status: public keywords: Papillon-Lefèvre syndrome; cathepsin C; diagnostic method; protease; urine analysis. abstract: 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 publication: FEBS Journal volume: 283 number: 3 pagerange: 498-509 id_number: doi:10.1111/febs.13605 refereed: TRUE issn: 1742464X official_url: http://doi.org/10.1111/febs.13605 access: open language: en citation: 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 document_url: 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