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Intermediate Filament Diseases: Desminopathy

  • Lev G. Goldfarb
  • Montse Olivé
  • Patrick Vicart
  • Hans H. Goebel
Part of the Advances in Experimental Medicine and Biology book series (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.

Keywords

Autosomal Recessive Tail Domain Skeletal Myopathy Skeletal Muscle Disease Skeletal Muscle Pathology 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Landes Bioscience and Springer Science+Business Media 2008

Authors and Affiliations

  • Lev G. Goldfarb
    • 1
  • Montse Olivé
    • 2
  • Patrick Vicart
    • 3
  • Hans H. Goebel
    • 4
  1. 1.National Institutes of HealthBethesdaUSA
  2. 2.Institut de Neuropatologia IDIBELL-Hospital de BellvitgeHospitalet de LlobregatBarcelonaSpain
  3. 3.Laboratoire Cytosquelette et DéveloppementParisFrance
  4. 4.Department of NeuropathologyMainz University Medical CenterMainzGermany

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