Dynamin 2 and human diseases (axonal CMT)

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J Mol Med. 2010 Feb 3.

Dynamin 2 and human diseases.

Durieux AC, Prudhon B, Guicheney P, Bitoun M.

Inserm, UMR S974, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière,

Paris, F-75013, France.

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. W

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.