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VIDEO: Monogenic causes of CVD help identify therapeutic targets
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In this video exclusive, Cardiology Today Next Gen Innovator, Nathan Stitziel, MD, PhD, discusses the potential of utilizing clinical genetic testing help diagnose and treat patients with monogenic forms of CVD.
According to Stitziel, assistant professor of medicine, cardiovascular division and assistant professor of genetics at Washington University School of Medicine in St. Louis, and a Cardiology Today Next Gen Innovator, studying families and individuals with monogenic causes of CVD has also been useful in understanding human biology and identifying therapeutic targets.
Such research has identified loss-of-function mutations in genes such as PCSK9 and ANGPTL3, he said, noting that the former led to the development of PCSK9 inhibitors, and a similar approach is being used to develop agents to inhibit the ANGPTL3 protein.
“We have a family in which the loss-of-function mutations in ANGPTL3 led to very low levels of cholesterol and it appears that loss-of-function mutations in ANGPTL3 also protect from coronary disease, so we're looking forward to future outcomes of ANGPTL3 inhibitors to see whether or not those will also reduce the risk of CVD,” Stitziel said.