Proteomic investigation of the molecular pathophysiology of dysferlinopathy.
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 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.
De Palma
Sara
S
Institute of Molecular Bioimaging and Physiology, CNR, Via Fratelli Cervo 93, I-20090 Segrate, Milan, Italy.
Morandi
Lucia
L
Mariani
Elena
E
Begum
Shajna
S
Cerretelli
Paolo
P
Wait
Robin
R
Gelfi
Cecilia
C
D000595:Amino Acid Sequence; D000073939:Dysferlin; D015180:Electrophoresis, Gel, Two-Dimensional; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D020543:Proteome
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D020543:Proteome