Kurt+Peter Foundation supports research on rare form of muscular dystrophy

February 23, 2011

The Kurt+Peter Foundation has awarded two grants totalling $70,000 to Elizabeth McNally, MD, PhD, professor of medicine and human genetics at the University of Chicago, to study potential treatments for limb girdle muscular dystrophy, type 2C--a rare but severe form of muscular dystrophy.

One of the grants will fund research on how a genetic modifier, known as latent transforming growth factor beta binding protein, alters the course of the disease. McNally's group previously showed that genetic variation in this protein could decrease the severity of limb girdle muscular dystrophy.

We hope to determine why one family member with muscular dystrophy remains relatively strong while other relatives have more muscle weakness, McNally said. Our work in animal models suggests that certain genes can modulate the course of muscle function. Further evaluation of one of these modifier genes and the protein it makes, will help us learn how it protects muscles and may lead to a therapy that minimizes muscle damage and promotes muscle growth.

The other grant will be used to study the protein gamma-sarcoglycan that causes limb girdle muscular dystrophy, type 2C, the form of the disease that the Kurt+Peter Foundation hopes to cure. This grant will enable the research team to investigate a process called exon skipping, which allows a functioning protein to be made from a damaged gene by skipping over the defective region.

Exon skipping is currently being tested as a therapy for Duchenne Muscular Dystrophy, where it has shown promise. In the case of gamma sarcoglycan, however, it is not yet known whether the shortened protein will still be effective.

We are excited to support such promising studies that will lead to further research for treatments for this under-diagnosed and severe disease that impacts children worldwide, said Scott Frewing, president of the Kurt+Peter Foundation.

About the Kurt+Peter Foundation
The Kurt+Peter Foundation is a non-profit that raises funds to apply current science to potential therapies for limb girdle muscular dystrophy, type 2C. The foundation's mission is to expedite a treatment or cure in time to help this generation of children who suffer from this disease. The charity was co-founded in 2010 by Charlotte Drew, M.D. and Scott Frewing, whose 5-year-old and 3-year-old sons, Kurt and Peter, have the disease. To learn more about the Kurt+Peter Foundation, visit www.kurtpeterfoundation.org.

About the McNally Laboratory at the University of Chicago
The McNally laboratory studies the cellular, molecular and developmental biology of heart and muscle. McNally's pioneering research has led to a better understanding of the genes that play a role in the development of cardiomyopathy and muscular dystrophy.