Goebel H H, Bornemann A
Division of Neuropathology, University of Mainz Medical Center, Germany.
Virchows Arch B Cell Pathol Incl Mol Pathol. 1993;64(3):127-35. doi: 10.1007/BF02915105.
Desmin is an intermediate filament protein that in striated muscle is normally located at Z-bands, beneath the sarcolemma, and prominently at neuromuscular junctions. It is abundant during myogenesis and in regenerating fibers, but decreases in amount with maturation; in regenerating and denervated muscle fibers it is co-expressed with vimentin. Aggregates of desmin occur as nonspecific cytoplasmic bodies or cytoplasmic spheroid complexes, similar to the aggregates of keratin filaments in Mallory bodies or the neurofilament aggregates in Lewy bodies. In all three instances, alpha-B crystallin may be associated with desmin. There are now increasing numbers of neuromuscular disorders in which abnormal amounts of desmin, some abnormally phosphorylated, feature prominently in muscle fibres. Several of these diseases, including spheroid body myopathy, granulo-filamentous body myopathy and the dystrophinopathies, are familial. Ultrastructural and immunohistochemical studies of desmin have considerably broadened our understanding of the pathology of the cytoskeleton in muscle fibers and in certain hereditary neuromuscular diseases.
结蛋白是一种中间丝蛋白，在横纹肌中通常位于Z线、肌膜下方，在神经肌肉接头处尤为突出。它在肌生成过程中以及再生纤维中含量丰富，但随着成熟而减少；在再生和失神经支配的肌纤维中，它与波形蛋白共同表达。结蛋白聚集体表现为非特异性胞质体或胞质球状复合体，类似于马洛里小体中的角蛋白丝聚集体或路易小体中的神经丝聚集体。在所有这三种情况下，α-B晶状体蛋白可能与结蛋白相关。现在越来越多的神经肌肉疾病中，结蛋白数量异常，其中一些异常磷酸化，在肌纤维中显著存在。这些疾病中的几种，包括球状小体肌病、颗粒丝状小体肌病和肌营养不良症，都是家族性的。对结蛋白的超微结构和免疫组织化学研究大大拓宽了我们对肌纤维和某些遗传性神经肌肉疾病中细胞骨架病理学的理解。
