North Carolina Central University (NCCU) researchers have developed a simple diagnostic test to detect genetic mutations known to raise patients’ risk for high cholesterol and other common diseases such as diabetes and high blood pressure.
Dr. Dayami Lopez, associate professor of pharmaceutical science, has applied for a U.S. patent for the procedure she developed in her lab at NCCU’s Biomanufacturing Research Institute and Technology Enterprise (BRITE), where she has been on staff since 2008. Lopez and her research assistant, Dr. Quantil Melendez, investigate PCSK9, a human protein linked to absorption of cholesterol particles by the bloodstream.
PCSK9 mutations are identified as contributing to several common metabolic diseases, but individual diagnosis has been limited by the expense and time required when using existing methods for identifying gene mutations.
“This is the first diagnostic test for active PCSK9 outside of full genetic testing,” Lopez said, adding that most insurance won’t cover the cost of the full genetic analysis. “Ours is a simple, cheap blood test that most insurances would cover.”
A simple PCSK9 test could give medical practitioners a better understanding of the causes of metabolic diseases, as well as more customized treatment options.
Originally published July 6, 2018. Written by Renee Elder.