ARRA Helps Further Muscular Dystrophy Research
A grant funded by the National Institutes of Health (NIH) is allowing Lubov Timchenko, Ph.D., of Houston’s Baylor College of Medicine, to better understand the mechanisms of myotonic dystrophy type 1 (DM1), an inherited multisystem neuromuscular disease whose symptoms include muscle wasting, cataracts and heart problems. Dr. Timchenko credits the financial assistance of the American Recovery and Reinvestment Act (ARRA) with helping her work to progress.
Photo ID: Dr. Lubov Timchenko
DM1 is caused by a "stutter" in the dystrophia myotonica protein kinase (DMPK) gene that repeats a sequence of three nucleotides (cytosine-uridine-guanine). One of the resulting effects from this mutation is increased levels of a protein called CUG-binding protein (CUGBP1). Dr. Timchenko’s research focuses on teasing out the molecular mechanisms that misregulate the activity of CUGBP1 in muscles affected by DM1. The results of her work, says Dr. Timchenko, could be important in developing a therapy that would normalize CUGBP1 activity in people with DM1.
ARRA support, delivered through the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases, has helped the scientist and her colleagues to generate a mouse model of DM1 that mimics the accumulation of CUGBP1, which is abundant in people with the disease. The team’s data suggest that the new model might have the most severe form of the disease, congenital DM1, that affects developing skeletal muscle in children with the DM1 mutation. In addition to model development, the new ARRA funds have also helped support key personnel involved in the project.
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The activity above is being funded through the American Recovery and Reinvestment Act (ARRA). More information about the National Institutes of Health’s ARRA grant funding opportunities can be found at https://grants.nih.gov/recovery. To track the progress of HHS activities funded through the ARRA, visit www.hhs.gov/recovery. To track all federal funds provided through the ARRA, visit www.recovery.gov.