TY  - JOUR
UR  - http://doi.org/10.1111/febs.13605
SN  - 1742464X
VL  - 283
SP  - 498
IS  - 3
Y1  - 2016///
JF  - FEBS Journal
N2  - 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.
KW  - Papillon-Lefèvre syndrome; cathepsin C; diagnostic method; protease; urine analysis.
AV  - public
A1  - Hamon, Yveline
A1  - Legowska, Monika
A1  - Fergelot, Patricia
A1  - Dallet-Choisy, Sandrine
A1  - Newell, Louise
A1  - Vanderlynden, Lise
A1  - Kord Valeshabad, Ali
A1  - Acrich, Karina
A1  - Kord, Hadi
A1  - Tsamakis, Charalampos
A1  - Morice-Picard, Fanny
A1  - Surplice, Ian
A1  - Zoidakis, Jerome
A1  - David, Karen
A1  - Vlahou, Antonia
A1  - Ragunatha, Shivanna
A1  - Nagy, Nikoletta
A1  - Farkas, Katalin
A1  - Széll, Márta
A1  - Goizet, Cyril
A1  - Schacher, Beate
A1  - Battino, Maurizio
A1  - Al Farraj Aldosari, Abdullah
A1  - Wang, Xinwen
A1  - Liu, Yang
A1  - Marchand-Adam, Sylvain
A1  - Lesner, Adam
A1  - Kara, Elodie
A1  - Korkmaz-Icöz, Sevil
A1  - Moss, Celia
A1  - Eickholz, Peter
A1  - Taieb, Alain
A1  - Kavukcu, Salih
A1  - Jenne, Dieter E.
A1  - Gauthier, Francis
A1  - Korkmaz, Brice
TI  - Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome
EP  - 509
ID  - uneatlantico579
ER  -