University of Rochester scientists studying a vital protein called Serum Response Factor (SRF) in mice have learned new and unexpected facts about SRFs role in early cardiovascular development, and how a defect in this gene may be an underlying cause in human miscarriages.
The research is reported in this weeks Proceedings of the National Academy of Sciences. At this point it is unclear whether subtle defects in SRF might also be linked to adult cardiovascular disease. However, the research provides a foundation for understanding how gene mutations may disrupt heart function, perhaps making some adults more susceptible to heart failure or irregular reactions to drugs.
"One reason for studying the biology of our genetic blueprint is so that we can understand how mutations in the genes encoding for proteins such as SRF may relate to human disease," says Joseph M. Miano, Ph.D., associate professor of Medicine in the Center for Cardiovascular Research at the Universitys Aab Institute of Biomedical Sciences. "Defining the full spectrum of genetic mutations is key to genetic screening and gene-based therapies."
Leslie Orr | EurekAlert!
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