Proteomic investigation of the molecular pathophysiology of dysferlinopathy

Sara De Palma, Lucia Morandi, Elena Mariani, Shajna Begum, Paolo Cerretelli, Robin Wait, Cecilia Gelfi

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi. The dysferlin gene product is a membrane-associated protein belonging to the ferlins family of proteins. The function of the dysferlin protein and the cause of deterioration and regression of muscle fibres in its absence, are incompletely known. A functional due may be the presence of six hydrophilic domains, C2, that bind calcium and mediate the interaction of proteins with cellular membranes. Dysferlin seems to be involved in the membrane fusion or repair. Molecular diagnosis of dysferlinopathies is now possible and the types of gene alterations that have been characterized so far include missense mutations, deletions and insertions.

Original languageEnglish
Pages (from-to)379-385
Number of pages7
JournalProteomics
Volume6
Issue number1
DOIs
Publication statusPublished - Jan 2006

Keywords

  • 2-DE
  • Dysferlin
  • Dysferlinopathy
  • MS
  • Muscle

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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