Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome
Article Subjects > Biomedicine Europe University of Atlantic > Research > Articles and books 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 and Legowska, Monika and Fergelot, Patricia and Dallet-Choisy, Sandrine and Newell, Louise and Vanderlynden, Lise and Kord Valeshabad, Ali and Acrich, Karina and Kord, Hadi and Tsamakis, Charalampos and Morice-Picard, Fanny and Surplice, Ian and Zoidakis, Jerome and David, Karen and Vlahou, Antonia and Ragunatha, Shivanna and Nagy, Nikoletta and Farkas, Katalin and Széll, Márta and Goizet, Cyril and Schacher, Beate and Battino, Maurizio and Al Farraj Aldosari, Abdullah and Wang, Xinwen and Liu, Yang and Marchand-Adam, Sylvain and Lesner, Adam and Kara, Elodie and Korkmaz-Icöz, Sevil and Moss, Celia and Eickholz, Peter and Taieb, Alain and Kavukcu, Salih and Jenne, Dieter E. and Gauthier, Francis and Korkmaz, Brice mail UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, maurizio.battino@uneatlantico.es, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED (2016) Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome. FEBS Journal, 283 (3). pp. 498-509. ISSN 1742464X
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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.
Item Type: | Article |
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Uncontrolled Keywords: | Papillon-Lefèvre syndrome; cathepsin C; diagnostic method; protease; urine analysis. |
Subjects: | Subjects > Biomedicine |
Divisions: | Europe University of Atlantic > Research > Articles and books |
Date Deposited: | 17 Mar 2022 23:55 |
Last Modified: | 17 Mar 2022 23:55 |
URI: | https://repositorio.uneatlantico.es/id/eprint/579 |
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