04 Jun UW–Madison researchers find hidden genetic clues upping cardiovascular disease risk
UW–Madison researchers studied smooth muscle cells like these, derived from induced pluripotent stem cells, to show that long-mysterious variations in an area of our genome harden blood vessels, puting some people at higher risk for cardiovascular disease. Image courtesy Lo Sardo Lab/UW–Madison
Researchers at the University of Wisconsin–Madison have uncovered new evidence in a decades-old genetic mystery, discovering how a group of genetic variations in a long-mysterious region of the human genome can put people at higher risk of cardiovascular disease.
Thanks to past studies of the whole human genome that drew associations between particular variations and disease, scientists have known for nearly 20 years that alterations in a section of human chromosome 9 called the 9p21.3 locus contribute to increased risk of developing coronary artery disease, CAD. The specific variations make atherosclerosis, a dangerous thickening and stiffening of the coronary arteries with plaque, more likely.
However, it was not well understood how the variations in this region lead to an increased risk for CAD. To solve that mystery, UW–Madison scientists coaxed induced pluripotent stem cells, which are living donor cells reprogrammed into a blank-slate state, into developing into the smooth muscle cells found in the walls of blood vessels.