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Grant - Winter 2019 - MC - Mark Rich, MD, PhD
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"More recently we have discovered other currents in skeletal muscle that we are currently characterizing in mouse models of diseases to determine whether block of these currents is effective in treating muscle dysfunction. We are optimistic that continued funding of our work by the MDA will lead to novel therapies for patients with these diseases."
Mark Rich, MD, PhD, professor of Neuroscience, Cell Biology, and Physiology and professor of Neurology at Wright State University, Ohio, was awarded an MDA research grant totaling $300,000 over three years to investigate blocking the transient receptor potential ion channel type 4 protein (TRPV4) as a novel approach to treating myotonia congenita (MC).
MC is an inherited myopathy that causes muscles to become still from contracting too much. Using mouse models, Dr. Rich discovered a novel electrical current in skeletal muscle that is the likely cause of this muscle stiffness, and MDA funded a past proposal for which he characterized this current and tested drugs known to have an effect on skeletal muscle currents as potential therapeutics. This work led to two clinical trials of the drug ranolazine in patients with myotonia caused by mutations in muscle chloride and sodium channels.
Recently, Dr. Rich developed a novel in vitro (in a petri dish) system test; preliminary data from this test suggested that the TRPV4 protein plays a large role in myotonia. In this work, he will use pharmacologic and genetic studies in vitro and in mouse models to discover if blocking TRPV4 protein may be targeted therapeutically by drugs currently being used to treat heart failure in clinical trials. This approach might make clinical translation of a drug to treat MC much more rapid if his findings are promising.
https://doi.org/10.55762/pc.gr.84562
Grantee: MC - Mark Rich, MD, PhD
Grant type: Research Grant
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