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Dynamin 2 and human diseases

Anne-Cécile Durieux1, Bernard Prudhon, Pascale Guicheney

  • 1Inserm, UMR S974, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, F-75013, France.

Journal of Molecular Medicine (Berlin, Germany)
|February 4, 2010
PubMed

Insights

Mutations in Dynamin 2 (DNM2) cause rare neuromuscular disorders, centronuclear myopathy and Charcot-Marie-Tooth disease. This review explores DNM2's role in membrane trafficking and cytoskeleton regulation, linking its dysfunction to these distinct conditions.

Area of Science:

  • Molecular Biology
  • Cell Biology
  • Neuroscience

Background:

  • Dynamin 2 (DNM2) mutations are linked to autosomal dominant centronuclear myopathy and Charcot-Marie-Tooth disease.
  • DNM2 is a GTPase crucial for membrane trafficking, including endocytosis and exocytosis.
  • DNM2 also regulates cytoskeletal dynamics, interacting with actin and microtubule networks.

Purpose of the Study:

  • To review the molecular, biochemical, and functional data on Dynamin 2.
  • To discuss the pathophysiological mechanisms linking DNM2 mutations to neuromuscular disorders.

Main Methods:

  • Literature review of molecular, biochemical, and functional studies on DNM2.
  • Analysis of existing data on DNM2's role in membrane trafficking and cytoskeleton regulation.
  • Discussion of mutation-induced pathophysiological pathways.

Main Results:

  • DNM2 is essential for vesicle formation and intracellular transport.
  • DNM2's functions extend beyond membrane trafficking to include cytoskeletal regulation.
  • Mutations in DNM2 disrupt these fundamental cellular processes, leading to disease.

Conclusions:

  • DNM2 plays a multifaceted role in cellular function, impacting both membrane dynamics and cytoskeletal organization.
  • Dysregulation of DNM2 function through mutations provides a mechanistic link to centronuclear myopathy and Charcot-Marie-Tooth disease.
  • Further research into DNM2's complex roles may reveal therapeutic targets for these neuromuscular conditions.

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