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Research Breakthrough in France!
In 1996, French researcher, Dr. Jocelyn Laporte, discovered the gene that causes Myotubular Myopathy, which was named the MTM1 gene. The MTM1 gene codes for the protein, myotubularin, which is present in all muscle cells.
Using this information, two potential treatments of MTM have been developed and studied. These studies indicate that 1) enzyme replacement therapy, which addresses the myotubularin deficiency, and 2) gene replacement therapy, which targeting the MTM1 gene itself, are able to effectively treat animal models of MTM!
Now, the Myotubular Trust has announced Dr. Laporte's discovery of yet a third way to alleviate the symptoms associated with MTM! Studies in the causes of Centronuclear Myopathy have revealed that mutations in the DNM2 gene are associated with higher levels of dynamin in muscle cells of those with Centronuclear Myopathy as well as those with Myotubular Myopathy. This excess dynamin is linked to the symptoms of weakness in the patients. Through gene modulation, Laporte's team has been able to decrease the presence of the dynamin and thereby eliminate the symptoms of myopathy, i.e. strengthen muscles cells and restore full life-spans to affected animals! Read the exciting Myotubular Trust press release for more details!
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Jeans for Genes!
The last day in February every year has come to be known as World Rare Disease Day. This is a time to celebrate the love each one of us has for someone "rare." You can raise awareness for rare genes tomorrow by wearing a denim blue ribbon, blue jeans, or the color blue! By making more people aware of these conditions, participants hope to improve access to treatments and to promote medical representation for individuals and families affected by rare genetic conditions such as Myotubular and Centronuclear Myopathy. Please participate and feel free to share your pictures on our FB page!
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Keep an eye out for our upcoming newsletters for continued news and updates about our amazing community!
Warmest regards,
Your MTM-CNM Family Conference Planning Team!
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