Journal of Molecular Medicine

, Volume 88, Issue 4, pp 339–350 | Cite as

Dynamin 2 and human diseases

  • Anne-Cécile Durieux
  • Bernard Prudhon
  • Pascale Guicheney
  • Marc BitounEmail author


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.


Dynamin 2 Centronuclear myopathy Charcot–Marie-Tooth neuropathy Endocytosis Cytoskeleton Monogenic disease Biology 



phophatidylinositol 4,5-bisphosphate


phophatidylinositol 3,4,5-triphosphate


phophatidylinositol 3,4-bisphosphate


phophatidylinositol 4-monophosphate


phophatidylinositol 3-monophosphate


lysophosphatidic acid


glucose transporter 4


trans-Golgi network





We thank Dr. Rachel Peat and Dr. Edgar Gomes for helpful advice. Anne-Cécile Durieux was the recipient of a fellowship from the Association Française contre les Myopathies (AFM).


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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
    Email author
  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

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