Results now published in EMBO Molecular Medicine unravel the mechanism of one of the genes responsible for rare neonatal disease.

Lisbon (September 30, 2014): An international team led by a Edgar Gomes, of the Myology Institut, Paris, and the Instituto de Medicina Molecular (IMM), School of Medicine, University of Lisbon, discovered the mechanism behind a gene responsible for the development of centronuclear myopathy.

The mechanism they discovered was that of BIN1 – one of the four genes that have mutations in this group of conditions. This breakthrough was made possible through the development of a simple cellular system in which the disease was replicated in cell culture (in vitro), and through which the disease cell symptoms were reversed.

To Dr Gomes this result is a giant step for the understanding of CNM since the study will now allow to quickly finding drugs that are clinically effective in treating this clinical condition.

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The paper explained:

Centronuclear myopathies (CNM) and myotonic dystrophy have common pathological features such as centrally positioned nuclei and defects in triad organization in skeletal muscle. Both these disorders can be caused by alterations in BIN1/AMPH2 gene.

In our work, we describe a novel in vitro system to study muscle disorders. We found a novel protein that is regulated by BIN1/amphiphysin-2, named N-WASP, that is important for nuclear positioning and triad organization. We also found that N-WASP distribution is disrupted in skeletal muscle fibers from CNM and myotonic dystrophy patients. Furthermore, we show that activation of N-WASP can revert the pathological features of CNM in vitro.

Our work suggests that activation of N-WASP can be a new therapeutic approach for the treatment of CNM and other muscles disorders. Furthermore, the in vitro system that we describe in this work provides a platform to screen for potential drugs to ameliorate or treat muscle disorders.

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