The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

  • Royer B
  • Hnia K
  • Gavriilidis C
 et al. 
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Abstract

Myotubularin (MTM1) and amphiphysin 2 (BIN1) are two proteins mutated in different forms of centronuclear myopathy, but the functional and pathological relationship between these two proteins was unknown. Here, we identified MTM1 as a novel binding partner of BIN1, both in vitro and endogenously in skeletal muscle. Moreover, MTM1 enhances BIN1-mediated membrane tubulation, depending on binding and phosphoinositide phosphatase activity. BIN1 patient mutations induce a conformational change in BIN1 and alter its binding and regulation by MTM1. In conclusion, we identified the first molecular and functional link between MTM1 and BIN1, supporting a common pathological mechanism in different forms of centronuclear myopathy.

Author-supplied keywords

  • Amphiphysin
  • BIN1
  • MTM1
  • centronuclear myopathy
  • myotubular myopathy
  • myotubularin

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