Goebel H H
Division of Neuropathology, Mainz University Medical Center, Germany.
Muscle Nerve. 1995 Nov;18(11):1306-20. doi: 10.1002/mus.880181114.
Desmin, the intermediate filament protein of skeletal muscle fibers, cardiac myocytes, and certain smooth muscle cells, is a member of the cytoskeleton linking Z-bands with the plasmalemma and the nucleus. The pathology of desmin in human neuromuscular disorders is always marked by increased amounts, diffusely or focally. Desmin is highly expressed in immature muscle fibers, both during fetal life and regeneration as well as in certain congenital myopathies, together with vimentin. Desmin is also enriched in neonatal myotonic dystrophy and small fibers in infantile spinal muscular atrophy. Focal accretion of desmin may be twofold, in conjunction with certain inclusion bodies, cytoplasmic and spheroid bodies, and in a more patchy fashion, granulofilamentous material. Both lesions have been found in certain families, affected by a myopathy and/or cardiomyopathy. Other proteins, e.g., dystrophin, vimentin, actin, ubiquitin, and alpha-B crystallin, may also be overexpressed. Desmin pathology may be genetically regulated or may merely reflect profoundly impaired metabolism of several proteins within myofibers.
结蛋白是骨骼肌纤维、心肌细胞和某些平滑肌细胞的中间丝蛋白，是细胞骨架的成员之一，它将Z带与质膜和细胞核连接起来。在人类神经肌肉疾病中，结蛋白的病理变化总是表现为数量增加，呈弥漫性或局灶性。在胎儿期、再生过程中以及某些先天性肌病中，结蛋白在未成熟肌纤维中高度表达，同时波形蛋白也高表达。结蛋白在新生儿强直性肌营养不良和婴儿型脊髓性肌萎缩的小纤维中也有富集。结蛋白的局灶性积聚可能有两种情况，一种是与某些包涵体、胞质体和球状体相关，另一种是更呈斑片状的颗粒丝状物质。在某些受肌病和/或心肌病影响的家族中都发现了这两种病变。其他蛋白质，如肌营养不良蛋白、波形蛋白、肌动蛋白、泛素和α-B晶状体蛋白，也可能过度表达。结蛋白病理可能受遗传调控，也可能仅仅反映了肌纤维内几种蛋白质的代谢严重受损。
