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与2A型肢带型肌营养不良相关的突变导致肌肉特异性钙蛋白酶p94的功能缺陷。

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.

作者信息

Ono Y, Shimada H, Sorimachi H, Richard I, Saido T C, Beckmann J S, Ishiura S, Suzuki K

机构信息

Laboratory of Molecular Structure and Functions, Department of Molecular Biology, Institute of Molecular and Cellular Biosciences, University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo 113-0032, Japan.

出版信息

J Biol Chem. 1998 Jul 3;273(27):17073-8. doi: 10.1074/jbc.273.27.17073.

Abstract

p94 (calpain3), a muscle-specific member of the calpain family, has been shown to be responsible for limb-girdle muscular dystrophy type 2A (LGMD2A), a form of autosomal recessive and progressive neuromuscular disorder. To elucidate the molecular mechanism of LGMD2A, we constructed nine p94 missense point mutants found in LGMD2A and analyzed their p94 unique properties. All mutants completely or almost completely lose the proteolytic activity against a potential substrate, fodrin. However, some of the mutants still possess autolytic activity and/or connectin/titin binding ability, indicating these properties are not necessary for the LGMD2A phenotypes. These results provide strong evidence that LGMD2A results from the loss of proteolysis of substrates by p94, suggesting a novel molecular mechanism leading to muscular dystrophies.

摘要

p94(钙蛋白酶3)是钙蛋白酶家族的肌肉特异性成员,已被证明与常染色体隐性进行性神经肌肉疾病2A型肢带型肌营养不良症(LGMD2A)有关。为了阐明LGMD2A的分子机制,我们构建了在LGMD2A中发现的9个p94错义点突变体,并分析了它们独特的p94特性。所有突变体完全或几乎完全丧失了对潜在底物血影蛋白的蛋白水解活性。然而,一些突变体仍然具有自溶活性和/或连接蛋白/肌联蛋白结合能力,这表明这些特性对于LGMD2A的表型并非必需。这些结果提供了强有力的证据,证明LGMD2A是由p94对底物的蛋白水解作用丧失所致,提示了一种导致肌营养不良症的新分子机制。

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