Measuring Calpain 3 Proteolytic Activity Using an in vitro Substrate (CROSBI ID 517552)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Milić, Astrid ; Daniele, Nathalie ; Bartoli, Marc ; Lochmuller, Hans ; Mora, Marina ; Comi, Giacomo ; Moggio, Maurizio ; Noulet, Fanny ; Poupiot, Jerome ; Richard, Isabelle
engleski
Measuring Calpain 3 Proteolytic Activity Using an in vitro Substrate
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. In order to improve LGMD2A diagnosis, we have developed an in vitro assay that can detect the proteolytic activity of calpain 3 in a muscle sample. This assay is based on the use of an inactive calpain 3 as a substrate for active calpain 3 molecules. A total of 79 human biopsies consisting of 42 confirmed LGMD2A and 37 other samples (normals, others myopathies and undiagnosed muscles) have been analyzed. Proteolytic activity was either reduced or absent in 68% of LGMD2A biopsies. In the remaining 32%, normal proteolytic activity was found despite the presence of calpain 3 mutation(s), suggesting that other calpain 3 properties, possibly in vivo recognition of physiological substrates or correct calpain 3 localisation in muscle fiber, might be impaired to give rise to the LGMD2A phenotype.
calpain 3; proteolytic activity; in vitro
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Podaci o prilogu
36-36-x.
2006.
objavljeno
Podaci o matičnoj publikaciji
Colloque Dystrophies Musculaires des Ceintures / Limb Girdle Muscular Dystrophies Symposium. Programme et Resumes / Programme and Abstracts
Urtizberea, Jan A. ; Richard, Isabelle
Evry: Association Francaise contre les Myopathies
Podaci o skupu
Colloque Dystrophies Musculaires des Ceintures / Limb Girdle Muscular Dystrophies Symposium
pozvano predavanje
12.05.2006-13.05.2006
Évry, Francuska