Maurice Swanson, professor of molecular genetics and microbiology at the University of Florida College of Medicine in Gainesville, was awarded an MDA research grant totaling $300,000 over a period of three years to develop models to study sleep disturbance in types 1 and 2 myotonic muscular dystrophy (MMD1 and MMD2, also known as DM1 and DM2).
MMD1 and MMD2 are caused by a gene expansion that leads to loss of a protein called muscleblind. Muscleblind regulates the formation of many different proteins, only some of which affect muscle. People with MMD and their families have noted that one of the most debilitating aspects of this disease is hypersomnia or excessive daytime sleepiness, and animal models of the disease also display sleep disturbance. This suggests that loss of muscleblind in MMD likely affects the central nervous system's regulation of sleep.
Therefore, the goal of Swanson’s study is to define the molecular mechanisms underlying abnormal sleep regulation in MMD. He will develop mouse and cell models to study how normal circadian rhythms are altered by inhibition of muscleblind and related proteins, and identify the key circadian cycle regulatory genes that are affected in MMD.
“This study should provide significant new insights into the cellular basis for abnormal sleep patterns” in MMD, he says, “and promotes the development of novel therapeutics to treat excessive daytime sleepiness.”
Funding for this MDA grant began August 1, 2013.