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The Sarcomere and Skeletal Muscle Disease pp 131–164Cite as

Intermediate Filament Diseases: Desminopathy

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 642))

Abstract

Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin. The inheritance pattern in familial desminopathy is characterized as autosomal dominant or autosomal recessive, but many cases have no family history. At least some and likely most sporadic desminopathy cases are associated with de novo DES mutations. The age of disease onset and rate of progression may vary depending on the type of inheritance and location of the causative mutation. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulbar muscles. Skeletal myopathy is often combined with cardiomyopathy manifested by conduction blocks, arrhythmias and chronic heart failure resulting in premature sudden death. Respiratory muscle weakness is a major complication in some patients. Sections of the affected skeletal and cardiac muscles show abnormal fibre areas containing chimeric aggregates consisting of desmin and other cytoskeletal proteins. Various DES gene mutations: point mutations, an insertion, small in-frame deletions and a larger exon-skipping deletion, have been identified in desminopathy patients. The majority of these mutations are located in conserved alpha-helical segments, but additional mutations have recently been identified in the tail domain. Filament and network assembly studies indicate that most but not all disease-causing mutations make desmin assembly-incompetent and able to disrupt a pre-existing filamentous network in dominant-negative fashion. AlphaB-crystallin serves as a chaperone for desmin preventing its aggregation under various forms of stress; mutant CRYAB causes cardiac and skeletal myopathies identical to those resulting from DES mutations.

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Authors and Affiliations

  1. National Institutes of Health, 5625 Fishers Lane, Room 4S06, Bethesda, MD, 20892-9404, USA

    Lev G. Goldfarb

  2. Institut de Neuropatologia IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain

    Montse Olivé

  3. Laboratoire Cytosquelette et Développement, Paris, France

    Patrick Vicart

  4. Department of Neuropathology, Mainz University Medical Center, Mainz, Germany

    Hans H. Goebel

Authors
  1. Lev G. Goldfarb
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  2. Montse Olivé
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  3. Patrick Vicart
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  4. Hans H. Goebel
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Corresponding author

Correspondence to Lev G. Goldfarb .

Editor information

Editors and Affiliations

  1. Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia

    Nigel G. Laing PhD

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© 2008 Landes Bioscience and Springer Science+Business Media

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Goldfarb, L.G., Olivé, M., Vicart, P., Goebel, H.H. (2008). Intermediate Filament Diseases: Desminopathy. In: Laing, N.G. (eds) The Sarcomere and Skeletal Muscle Disease. Advances in Experimental Medicine and Biology, vol 642. Springer, New York, NY. https://doi.org/10.1007/978-0-387-84847-1_11

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