Schröder Rolf, Vrabie Alexandra, Goebel Hans H
Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
J Cell Mol Med. 2007 May-Jun;11(3):416-26. doi: 10.1111/j.1582-4934.2007.00057.x.
Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities. Skeletal and cardiac muscle from patients with primary desminopathies characteristically display cytoplasmic accumulation of desmin-immunoreactive material and myofibrillar changes. However, desmin-positive protein aggregates in conjunction with myofibrillar abnormalities are also the morphological hallmark of the large group of secondary desminopathies (synonyms: myofibrillar myopathies, desmin-related myopathies), which comprise sporadic and familial neuromuscular conditions of considerable clinical and genetic heterogeneity. Here, we will give an overview on the functional role of desmin in striated muscle as well as the main clinical, myopathological, genetic and patho-physiological aspects of primary desminopathies. Furthermore, we will discuss recent genetic and biochemical advances in distinguishing primary from secondary desminopathies.
位于2q35染色体上的人类结蛋白基因发生突变，会导致一种常与心脏异常相关的家族性或散发性骨骼肌病。原发性结蛋白病患者的骨骼肌和心肌特征性地表现为结蛋白免疫反应性物质在细胞质中积聚以及肌原纤维改变。然而，结蛋白阳性蛋白聚集体与肌原纤维异常也是一大类继发性结蛋白病（同义词：肌原纤维肌病、结蛋白相关肌病）的形态学标志，这类疾病包括具有相当临床和遗传异质性的散发性和家族性神经肌肉疾病。在此，我们将概述结蛋白在横纹肌中的功能作用，以及原发性结蛋白病的主要临床、肌病理、遗传和病理生理方面。此外，我们还将讨论在区分原发性和继发性结蛋白病方面最近的遗传和生化进展。
