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Review
. 2007 May-Jun;11(3):416-26.
doi: 10.1111/j.1582-4934.2007.00057.x.

Primary desminopathies

Rolf Schröder  1 , Alexandra Vrabie, Hans H Goebel
Affiliations
Review

Primary desminopathies

Rolf Schröder et al. J Cell Mol Med. 2007 May-Jun.

Abstract

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.

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Figures

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(A and B) Lower leg muscle atrophy in a German patient harbouring a heterozygous K240del desmin mutation.
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(A and B) Lower leg muscle atrophy in a German patient harbouring a heterozygous K240del desmin mutation.
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Several cytoplasmic bodies within muscle fibres. Modified Gomori trichrome.
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Aggregate of cytoplasmic bodies with conspicuous halos. One micrometre-thick eponembedded section, methylene blue.
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Cytoplasmic body consists of a granular electrondense core and a light halo of filaments.
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Labelling of the filamentous component of granulofilamentous material by gold-related immunoelectron microscopy using an antibody against desmin.
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Several spheroid bodies in a muscle fibre rich in α-B crystallin.Immunohistochemistry.
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Labelling of filaments in granulofilamentous material by gold-related immunoelectron microscopy using an antibody against α-B crystallin (by courtesy of Prof. Mayer, Nottingham, U.K.).
See this image and copyright information in PMC

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