Journal of Molecular Medicine

, Volume 88, Issue 4, pp 339–350

Dynamin 2 and human diseases

  • Anne-Cécile Durieux
  • Bernard Prudhon
  • Pascale Guicheney
  • Marc Bitoun
Review

DOI: 10.1007/s00109-009-0587-4

Cite this article as:
Durieux, AC., Prudhon, B., Guicheney, P. et al. J Mol Med (2010) 88: 339. doi:10.1007/s00109-009-0587-4

Abstract

Dynamin 2 (DNM2) mutations cause autosomal dominant centronuclear myopathy, a rare form of congenital myopathy, and intermediate and axonal forms of Charcot–Marie-Tooth disease, a peripheral neuropathy. DNM2 is a large GTPase mainly involved in membrane trafficking through its function in the formation and release of nascent vesicles from biological membranes. DNM2 participates in clathrin-dependent and clathrin-independent endocytosis and intracellular membrane trafficking (from endosomes and Golgi apparatus). Recent studies have also implicated DNM2 in exocytosis. DNM2 belongs to the machinery responsible for the formation of vesicles and regulates the cytoskeleton providing intracellular vesicle transport. In addition, DNM2 tightly interacts with and is involved in the regulation of actin and microtubule networks, independent from membrane trafficking processes. We summarize here the molecular, biochemical, and functional data on DNM2 and discuss the possible pathophysiological mechanisms via which DNM2 mutations can lead to two distinct neuromuscular disorders.

Keywords

Dynamin 2Centronuclear myopathyCharcot–Marie-Tooth neuropathyEndocytosisCytoskeletonMonogenic diseaseBiology

Abbreviations

PI4,5P2

phophatidylinositol 4,5-bisphosphate

PI3,4,5P3

phophatidylinositol 3,4,5-triphosphate

PI3,4P2

phophatidylinositol 3,4-bisphosphate

PI4P

phophatidylinositol 4-monophosphate

PI3P

phophatidylinositol 3-monophosphate

LPA

lysophosphatidic acid

GLUT4

glucose transporter 4

TGN

trans-Golgi network

BAR

Bin1/Amphiphysin/RVS167

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Anne-Cécile Durieux
    • 1
    • 2
  • Bernard Prudhon
    • 1
    • 2
  • Pascale Guicheney
    • 2
    • 3
  • Marc Bitoun
    • 1
    • 2
    • 4
  1. 1.Inserm, UMR S974, Institut de MyologieGroupe Hospitalier Pitié-SalpêtrièreParisFrance
  2. 2.UPMC Univ Paris 06ParisFrance
  3. 3.Inserm, UMR S956Groupe Hospitalier Pitié-SalpêtrièreParisFrance
  4. 4.UMR_S974, Institut de MyologieGroupe Hospitalier Pitié-SalpêtrièreParisFrance