Leinwand receives grant for heart research

LeinwandLeslie Leinwand, chief scientific officer of the University of Colorado’s BioFrontiers Institute, has been studying the motor protein, myosin, for 25 years. This important protein is responsible for making muscles contract, including one vital muscle: the heart. She recently won a $45,837 grant from the Children’s Cardiomyopathy Foundation (CCF) to study the differences in the myosin mutations in adult and pediatric populations. She also plans to look at the effects of a small molecule drug on the pediatric versions of the protein in a test tube. This small molecule drug has promise for treating adults with heart failure.

Myosin drives heart muscle contraction, and when this protein is mutated, it has devastating effects on the cardiovascular system. There are more than 300 known mutations in myosin, many of which cause a disease called hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is the most common genetic heart disease, occurring in 1 in 500 individuals, and it is the leading cause of sudden death in young people. In hypertrophic cardiomyopathy, the heart muscle becomes thickened in parts, forcing the heart to work overtime pumping blood throughout the body.

Many adults manage this disease successfully by avoiding strenuous, competitive exercise and using a pacemaker, but children with this disease don’t have as many options as adults.

There are 1,000 to 5,000 new cases of pediatric hypertrophic cardiomyopathy diagnosed each year. The pediatric disease is relatively rare, with 12 children diagnosed out of every million; most patients are diagnosed before their first birthdays. Beyond the clear genetic causes, the other causes of the disease in children are not well-understood and research on the subject is sparse. Fewer than 25 percent of these childhood cases have an identifiable cause, despite standardized and rigorous testing.

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