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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Lookup NU author(s): Dr Louise VB Anderson, Ruth Harrison, Dr Robert Pogue, Dr Elizabeth Vafiadaki, Jennifer Moss, Professor Pamela Shaw, Dr Rumaisa Bashir, Emerita Professor Katherine Bushby

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Abstract

Dysferlin is the protein product of the gene (DYSF) 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 α2 chain (merosin) and dysferlin-deficiency. (C) 2000 Elsevier Science B.V.

Publication metadata

Author(s): Anderson LVB, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KMD

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2000

Volume: 10

Issue: 8

Pages: 553-559

Print publication date: 01/12/2000

Online publication date: 24/10/2000

Acceptance date: 10/04/2000

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/S0960-8966(00)00143-7

DOI: 10.1016/S0960-8966(00)00143-7

PubMed id: 11053681

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