Dysferlin and the plasma membrane repair in muscular dystrophy

Trends Cell Biol. 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004.03.001.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Membrane / genetics
  • Cell Membrane / pathology*
  • Dysferlin
  • Dystrophin / genetics*
  • Dystrophin / metabolism
  • Humans
  • Membrane Fusion / genetics
  • Membrane Fusion / physiology
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology*

Substances

  • DYSF protein, human
  • Dysferlin
  • Dystrophin
  • Membrane Proteins
  • Muscle Proteins