Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells

Sci Rep. 2017 Jul 4;7(1):4580. doi: 10.1038/s41598-017-04418-w.

Abstract

Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopathy characterized by progressive weakness and atrophy of skeletal muscles. However, the muscle-specific roles of dynamin-2 affected by these mutations remain elusive. Here we show that, in muscle cells, the GTP-ase activity of dynamin-2 is involved in de novo actin polymerization as well as in actin-mediated trafficking of the glucose transporter GLUT4. Expression of dynamin-2 constructs carrying CNM-linked mutations disrupted the formation of new actin filaments as well as the stimulus-induced translocation of GLUT4 to the plasma membrane. Similarly, mature muscle fibers isolated from heterozygous knock-in mice that harbor the dynamin-2 mutation p.R465W, an animal model of CNM, exhibited altered actin organization, reduced actin polymerization and impaired insulin-induced translocation of GLUT4 to the sarcolemma. Moreover, GLUT4 displayed aberrant perinuclear accumulation in biopsies from CNM patients carrying dynamin-2 mutations, further suggesting trafficking defects. These results suggest that dynamin-2 is a key regulator of actin dynamics and GLUT4 trafficking in muscle cells. Our findings also support a model in which impairment of actin-dependent trafficking contributes to the pathological mechanism in dynamin-2-associated CNM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / chemistry
  • Actins / metabolism*
  • Animals
  • Disease Models, Animal
  • Dynamin II / genetics*
  • Dynamin II / metabolism
  • Enzyme Activation
  • Gene Expression
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Glucose Transporter Type 4 / metabolism
  • Humans
  • Mice
  • Muscle Cells / metabolism*
  • Mutation*
  • Myoblasts / metabolism
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / metabolism*
  • Myopathies, Structural, Congenital / pathology
  • Protein Binding
  • Protein Multimerization
  • Protein Transport

Substances

  • Actins
  • Glucose Transporter Type 4
  • Dynamin II