Journal
NEUROMUSCULAR DISORDERS
Volume 10, Issue 8, Pages 553-559Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(00)00143-7
Keywords
dysferlin; calpain 3; laminin; merosin; muscular dystrophy; muscle proteins; Western blotting
Categories
Ask authors/readers for more resources
Dysferlin is the protein product of the gene (DYFS) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Calpain 3 is the muscle-specific member of the calcium activated neutral protease family and primary mutations in the CAPN3 gene cause limb girdle muscular dystrophy type 2A. The functions of both proteins remain speculative, Here we report a secondary reduction in calpain 3 expression in eight out of 16 patients with a primary dysferlinopathy and clinical features characteristic of limb girdle muscular dystrophy type 2B or Miyoshi myopathy. Previously CAPN3 analysis had been undertaken in three of these patients and two showed seemingly innocuous missense mutations, changing calpain 3 amino acids to those present in the sequences of calpains 1 and 2. These results suggest that there may be an association between dysferlin and calpain 3, and further analysis of both genes may elucidate a novel functional Interaction. In addition, an association was found between prominent expression of smaller forms of the 80 kDa fragment of laminin alpha2 chain (merosin) and dysferlin-deficiency. (C) 2000 Elsevier Science B.V. All lights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available