Patel K, Strong P N, Dubowitz V, Dunn M J
Jerry Lewis Muscle Research Centre, Department of Paediatrics, Royal Postgraduate Medical School, London, England.
FEBS Lett. 1988 Jul 18;234(2):267-71. doi: 10.1016/0014-5793(88)80095-4.
Nebulin and dystrophin are two high-molecular-mass skeletal muscle proteins that have both been associated with the defective gene in Duchenne muscular dystrophy, although the function of neither protein is known. Other high-molecular-mass, calmodulin-binding proteins have recently been implicated in regulating calcium release from skeletal muscle. Western blots of human skeletal muscle biopsy samples were probed with biotinylated calmodulin; nebulin was identified as a prominent high-molecular-mass calmodulin-binding protein but dystrophin did not bind detectable amounts of biotinylated calmodulin. Dystrophin was absent in a Duchenne muscle biopsy.
伴肌动蛋白和肌营养不良蛋白是两种高分子量的骨骼肌蛋白，它们都与杜兴氏肌营养不良症中的缺陷基因有关，尽管这两种蛋白质的功能尚不清楚。其他高分子量的钙调蛋白结合蛋白最近被认为与调节骨骼肌中的钙释放有关。用人骨骼肌活检样本进行蛋白质免疫印迹分析，并用生物素化钙调蛋白进行检测；伴肌动蛋白被鉴定为一种显著的高分子量钙调蛋白结合蛋白，但肌营养不良蛋白未结合可检测量的生物素化钙调蛋白。在杜兴氏肌活检中未检测到肌营养不良蛋白。
