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, 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.

“BRITE faculty and student researchers investigating cancer, cardiovascular and metabolic diseases are expanding our understanding of these diseases and developing new tools for diagnoses and treatment,”said Dr.Faye Calhoun, interim director of BRITE. “The test created and, eventually, to be taken to market through a spinoff company is a prime example of how NCCU’s emphasis on translational research is advancing not just science education, but also human health, and creating economic growth for North Carolina.”

PCSK9, which stands for proprotein convertase subtilsin/kexin-9, affects the body’s low-density lipoprotein (LDL) receptor. LDL is the type of cholesterol known as “bad cholesterol” that has the potential to build up in the arteries and lead to blockages. PCSK9 mutations have been linked to a variety of health threats such as high cholesterol, high blood pressure, hypothyroidism, and others that tend to run in families.

A study by Lopez and Melendez, “Hypercholesterolemia: The role of PCSK9,” was published in the Archives of Biochemistry and Biophysics in June 2017.

The blood assay method developed at BRITE is currently undergoing human medical trials, Lopez said. She and Melendez have formed a company, NIFP Technologies LLC, that will oversee the product manufacturing and distribution when the trial phase is complete.

“We are excited because our product can provide information that is valuable both in diagnosis and treatment”

Melendez, a December 2017 graduate of NCCU who earned her doctorate in Integrated Biosciences, will serve as the company’s chief executive officer, while Lopez will continue her research and teaching at BRITE.

“We are excited because our product can provide information that is valuable both in diagnosis and treatment,” Melendez said.

For example, physicians could use the test to quickly determine whether a patient’s high-cholesterol levels stem largely from lifestyle and nutrition issues or from genetic mutations, and help them pinpoint which medications would be most effective bringing LDL levels down, Lopez said.

The PCSK9 test may also be used to determine which patients might be vulnerable to muscle damage or suffer other side effects of statins, the most common treatment for high cholesterol, or identify those who may have a statin resistance.


Originally published Friday, July 6, 2018. Written by Renee Elder.