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Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome

Hamon, Y. and Legowska, M. and Fergelot, P. and Dallet-Choisy, S. and Newell, L. and Vanderlynden, L. and Kord Valeshabad, A. and Acrich, K. and Kord, H. and Charalampos, T. and Morice-Picard, F. and Surplice, I. and Zoidakis, J. and David, K. and Vlahou, A. and Ragunatha, S. and Nagy, N. and Farkas, K. and Széll, M. and Goizet, C. and Schacher, B. and Battino, M. and Al Farraj Aldosari, A. and Wang, X. and Liu, Y. and Marchand-Adam, S. and Lesner, A. and Kara, E. and Korkmaz-Icöz, S. and Moss, C. and Eickholz, P. and Taieb, A. and Kavukcu, S. and Jenne, D.E. and Gauthier, F. and Korkmaz, B. (2016) Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome. FEBS Journal, 283 (3). pp. 498-509. ISSN 17424658

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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. © 2015 FEBS.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: dipeptidyl peptidase I; microsomal aminopeptidase; CTSC protein, human; dipeptidyl peptidase I, adolescent; adult; aged; Article; CatC gene; child; clinical article; controlled study; diagnostic accuracy; enzyme activity; female; frameshift mutation; gene; gene mutation; genetic analysis; health care cost; human; immunohistochemistry; male; missense mutation; molecular weight; nonsense mutation; Papillon Lefevre syndrome; phenotype; priority journal; protein determination; protein urine level; reliability; urinalysis; genetics; infant; metabolism; middle aged; normal human; Papillon-Lefevre Disease; preschool child; urine; very elderly; young adult, Adolescent; Adult; Aged; Aged, 80 and over; Cathepsin C; Child; Child, Preschool; Female; Healthy Volunteers; Humans; Infant; Male; Middle Aged; Papillon-Lefevre Disease; Phenotype; Young Adult
Subjects: مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 07 Sep 2016 07:25
Last Modified: 08 May 2018 04:46
URI: http://eprints.goums.ac.ir/id/eprint/4595

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