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

Détails

ID Serval
serval:BIB_5F24C6EB4157
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
Périodique
Neuromuscular Disorders
Auteur(s)
Anderson  L. V., Harrison  R. M., Pogue  R., Vafiadaki  E., Pollitt  C., Davison  K., Moss  J. A., Keers  S., Pyle  A., Shaw  P. J., Mahjneh  I., Argov  Z., Greenberg  C. R., Wrogemann  K., Bertorini  T., Goebel  H. H., Beckmann  J. S., Bashir  R., Bushby  K. M.
ISSN
0960-8966 (Print)
Statut éditorial
Publié
Date de publication
12/2000
Volume
10
Numéro
8
Pages
553-9
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
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 alpha 2 chain (merosin) and dysferlin-deficiency.
Mots-clé
Calpain/*deficiency/genetics DNA Mutational Analysis Humans *Membrane Proteins Muscle Proteins/*deficiency/genetics Muscular Diseases/*enzymology/genetics Muscular Dystrophies/*enzymology/genetics
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 15:16
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