Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 213 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 clue 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.
|Titolo:||Proteomic investigation of the molecular pathophysiology of dysferlinopathy|
|Autori interni:||GELFI, CECILIA|
|Parole Chiave:||2-DE; Dysferlin; Dysferlinopathy; MS; Muscle|
|Settore Scientifico Disciplinare:||Settore BIO/09 - Fisiologia|
|Data di pubblicazione:||gen-2006|
|Digital Object Identifier (DOI):||10.1002/pmic.200500098|
|Appare nelle tipologie:||01 - Articolo su periodico|