3D image of a heart valve

Heart valve disease linked to genes

UBC researcher studies how valves form before birth, for clues to preventing disease later in life.

The improper development of heart valves is responsible for 20 to 30 per cent of cardiac abnormalities.

Heart and Stroke Foundation researcher Dr. Pamela Hoodless

Dr. Pamela Hoodless

Valve disease is the third leading cause of heart disease and its prevalence increases with age as the valves change in shape and stiffness.

A number of factors are involved in both embryonic valve formation and valve disease in adults. In fact, it is possible that valve disease later in life is associated with abnormal heart valve development before birth.

“The origins of heart valve disease are not well understood and may result from a combination of environmental and genetic factors,” says Dr. Pamela Hoodless, a professor of medical genetics at the University of British Columbia.

Her goal is to better understand how formation of the heart valve at the embryo stage is controlled by genes, and how this may contribute to valve disease later.

As the genetic mechanisms responsible for many valve defects is still a mystery, detailing what goes wrong during valve formation is critical in preventing heart valve disease.

Dr. Hoodless is comparing the mechanisms of valve formation and repair to those of cartilage and bone formation, as some of the same genes are activated in both processes. The spotlight will be on the SOX9 protein, which controls the genes necessary for heart valve and cartilage formation and which may play a role in valve disease.

Dr. Hoodless will determine which genes are affected by the loss of SOX9 and how. She intends to outline the mechanisms behind valve formation and repair, including how errors can lead to disease.

Identifying the various genetic factors essential for valve formation will allow researchers to develop targeted therapies, potentially making it possible to repair valves without the need for surgery.

Dr. Hoodless’s work to improve current understanding of heart valve development will benefit researchers working on utilizing stem cells for heart valve replacement therapy. Results from this project may also give rise to screening programs to identify people who are at risk. This will make early intervention and prevention of heart valve disease possible.

“In my laboratory, we use cutting-edge genomic technologies to examine how thousands of genes change over time during valve formation,” Dr. Hoodless says. “Genomic technologies are powerful tools that can provide a comprehensive view of genetic events occurring in valves. These new techniques are labor intensive and require sophisticated equipment. Without Heart and Stroke Foundation funding, our research would be dramatically curtailed.”

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