title: Dysferlin and the plasma membrane repair in muscular dystrophy.
abstract: Muscular dystrophy covers a group of genetically determined disorders that cause progressive weakness and wasting of the skeletal muscles. Dysferlin was identified as a gene mutated in limb-girdle muscular dystrophy (type 2B) and Miyoshi myopathy. The discovery of dysferlin revealed a new family of proteins, known as the ferlin family, which includes four different genes. Recent work suggests the function of dysferlin in membrane repair and demonstrates that defective membrane repair is a novel mechanism of muscle degeneration. These findings reveal the importance of a basic cellular function in skeletal muscle and a new class of muscular dystrophy where the defect lies in the maintenance, not the structure, of the plasma membrane. Here, we discuss the current knowledge of dysferlin function in the repair of the plasma membrane of the skeletal muscle cells.
authors.affiliation: Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa, Roy J. & Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA.
authors.forename: Dimple
authors.initials: D
authors.lastname: Bansal
authors.forename: Kevin P
authors.initials: KP
authors.lastname: Campbell
mesh_terms: D000818:Animals; D002462:Cell Membrane / Q000235:genetics / Q000473:pathology*; D000073939:Dysferlin; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008561:Membrane Fusion / Q000235:genetics / Q000502:physiology; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D016189:Dystrophin; D008565:Membrane Proteins; D009124:Muscle Proteins