Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.

ABSTRACT:

Background

The diagnosis of calpainopathy is obtained by identifying calpain-3 protein deficiency or CAPN3 gene mutations. However, in many patients with limb girdle muscular dystrophy type 2A (LGMD2A), the calpain-3 protein quantity is normal because loss-of-function mutations cause its enzymatic inactivation. The identification of such patients is difficult unless a functional test suggests pursuing a search for mutations.

Materials and methods

A functional in vitro assay, which was able to test calpain-3 autolytic function, was used to screen a large series of muscle biopsy specimens from patients with unclassified LGMD/hyperCKaemia who have previously shown normal calpain-3 protein quantity.

Results

Of 148 muscle biopsy specimens tested,17 samples (11%) had lost n

SUBMITTER: Fanin M 

PROVIDER: S-EPMC2597906 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature