Research Team Discovers New Gene for Dilated Cardiomyopathy

A team of researchers at the University of Miami Miller School of Medicine has identified a new gene that, when altered, causes dilated cardiomyopathy, which leads to heart failure in millions of people. Their findings have been published in the February 24 online edition of the American Journal of Human Genetics.

Dilated cardiomyopathy (DCM) is a condition in which the heart muscle becomes weakened and the heart enlarges. The resulting heart failure is the most frequent cause of heart transplantation. DCM not only affects individuals but also other family members in at least half of the cases. Termed familial dilated cardiomyopathy, it has been shown to be caused by rare variant mutations in more than 30 genes, yet only 35 percent of its genetic cause has been identified.

Ray E. Hershberger, M.D., professor of medicine and associate chief of the Cardiovascular Division at the Miller School, has been leading the Familial Dilated Cardiomyopathy Research Project in a search to discover itsgenetic causes since 1993. Using two new genomic technologies and a zebrafish model, a team of researchers led by Hershberger has identified rare variants of a gene, BAG3, which causes DCM.

“This is another piece of a very exciting but complicated puzzle,” says Hershberger, who began the FDC Project at Oregon Health & Science University. Collaborating with scientists at the John P. Hussman Institute for Human Genomics and the Division of Nephrology at UM, and the Department of Genome Sciences at the University of Washington, the researchers used exome sequencing, a new targeted method of studying all of the coding regions within the approximately 20,000 genes in a person’s DNA.

Via http://www.healthcanal.com/medical-breakthroughs/14835-Research-Team-Discovers-New-Gene-for-Dilated-Cardiomyopathy.html