Research ArticleMYOPATHIES

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

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Science Translational Medicine  20 Mar 2019:
Vol. 11, Issue 484, eaav1866
DOI: 10.1126/scitranslmed.aav1866

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A muscle-building interaction

Centronuclear myopathies (CNMs) are rare genetic disorders characterized by severe muscle weakness. Mutations in myotubularin 1 (MTM1) and in amphiphysin 2 (BIN1) are responsible for two different forms of the disease. BIN1 and MTM1 have been shown to interact in skeletal muscles. Now, Lionello et al. investigated the role of this interaction in a model of Mtm1-mediated CNM. Postnatal BIN1 overexpression improved survival and muscle strength in Mtm1 knockout mice. The treatment also restored myofiber integrity and rescued extracellular matrix and focal adhesion defects in myofibers. The results suggest that BIN1-MTM1 interaction plays a role in CNM and could be targeted for treating CNM due to MTM1 mutations.

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