Primary desminopathies.
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.
Schröder
Rolf
R
Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany. rolf.schroeder@uni-koeln.de
Vrabie
Alexandra
A
Goebel
Hans H
HH
D000818:Animals; D003599:Cytoskeleton / Q000473:pathology; D003893:Desmin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism* / Q000648:ultrastructure; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology* / Q000628:therapy; D009154:Mutation / Q000235:genetics; D012508:Sarcolemma / Q000473:pathology
D003893:Desmin