Ramelli G P
Department of Paediatrics, Ospedale San Giovanni Bellinzona, Bellinzona, Switzerland.
Clin Neuropathol. 2010 Jul-Aug;29(4):254-61. doi: 10.5414/npp29254.
The role of dystrobrevin, a cytoplasmic component of the dystrophin-protein complex, in neuromuscular diseases has not been fully elucidated. This study evaluated the expression of dystrobrevin in patients with different neuromuscular diseases.
We compared dystrobrevin isoforms expression in patients with Duchenne and Becker Muscular Dystrophy (DMD and BMD) and patients with other neuromuscular disorders not linked to the dystrophin-associated complex.
Both, alpha-dystrobrevin-1 and -2 isoforms are markedly reduced in the muscle of patients with dystrophinopathies irrespective of the age at the time of biopsy. Conversely, alpha-dystrobrevin-1 was preserved in Limb Girdle Muscular Dystrophies (LGMD) type 2I patients with altered glycosylation of alpha-dystroglycan and in patients with alterations of alpha-dystroglycan due to defects in extracellular matrix proteins (laminin-alpha2).
Immunolabeling of dystrobrevin could be a useful marker in the diagnostic of neuromuscular diseases.
肌营养不良蛋白-蛋白复合物的一种胞质成分——肌萎缩蛋白在神经肌肉疾病中的作用尚未完全阐明。本研究评估了肌萎缩蛋白在不同神经肌肉疾病患者中的表达情况。
我们比较了杜氏和贝克型肌营养不良症（DMD和BMD）患者以及其他与肌营养不良蛋白相关复合物无关的神经肌肉疾病患者中肌萎缩蛋白亚型的表达。
无论活检时的年龄如何，肌营养不良病患者肌肉中的α-肌萎缩蛋白-1和-2亚型均显著减少。相反，α-肌萎缩蛋白-1在α- dystroglycan糖基化改变的2I型肢带型肌营养不良症（LGMD）患者以及由于细胞外基质蛋白（层粘连蛋白-α2）缺陷导致α- dystroglycan改变的患者中得以保留。
肌萎缩蛋白的免疫标记可能是神经肌肉疾病诊断中的一种有用标志物。
