Prelle A, Moggio M, Comi G P, Gallanti A, Checcarelli N, Bresolin N, Ciscato P, Fortunato F, Scarlato G
Istituto di Clinica Neurologica, Centro Dino Ferrari, Università di Milano, Italy.
Neuromuscul Disord. 1992;2(3):169-75. doi: 10.1016/0960-8966(92)90003-o.
We studied a 5-yr-old boy clinically presenting congenital myopathy. Muscle biopsy showed sarcoplasmic accumulation of desmin filaments leading to diagnosis of desmin storage myopathy. An immunohistochemical study of other cytoskeletal proteins (actin, alpha-actinin, vimentin and dystrophin) was performed. Desmin positive areas reacted strongly with anti-mid-rod and C-terminus dystrophin antibodies. Probed with the same antibodies by Western blot, desmin and dystrophin showed normal molecular size but densitometric analysis demonstrated a parallel increase of both proteins. Our results indicate that intrasarcoplasmic desmin storage is associated with an abnormal accumulation of dystrophin. Since no other cytoskeletal proteins are accumulated this finding seems to be specific and suggests a possible structural and functional association between these two proteins in striated muscle.
我们研究了一名临床诊断为先天性肌病的5岁男孩。肌肉活检显示结蛋白丝在肌浆中蓄积，从而诊断为结蛋白贮积性肌病。我们对其他细胞骨架蛋白（肌动蛋白、α-辅肌动蛋白、波形蛋白和肌营养不良蛋白）进行了免疫组织化学研究。结蛋白阳性区域与抗杆部中段和C末端肌营养不良蛋白抗体发生强烈反应。通过蛋白质免疫印迹法用相同抗体检测，结蛋白和肌营养不良蛋白显示出正常的分子大小，但光密度分析表明这两种蛋白平行增加。我们的结果表明，肌浆内结蛋白贮积与肌营养不良蛋白的异常蓄积有关。由于没有其他细胞骨架蛋白蓄积，这一发现似乎具有特异性，并提示这两种蛋白在横纹肌中可能存在结构和功能上的关联。
