High Cholesterol Gene Offers New Insight
New treatments for high levels of cholesterol may result from promising research now underway at the UT Southwestern Medical Center in Dallas.
Researchers at UT Southwestern Medical Center at Dallas have located the gene that, when mutated, is responsible for autosomal recessive hypercholesterolemia (ARH), an inherited form of high cholesterol characterized by low-density lipoprotein levels of 350 to 600 milligrams per deciliter.
This disorder results in the development of premature coronary artery disease and accumulation of cholesterol in skin and tendons. A better understanding of the disorder may lead to the development of new treatments for high blood levels of cholesterol. The results of the study are published in the May 2001 issue of Science.
"This gene is a new key player in the clearance mechanism of LDL from the body. We know it's important because when it is mutated, people have very high plasma cholesterol levels," said Dr. Helen Hobbs, senior investigator of the study. Under normal conditions, low-density lipoprotein receptors (LDLR), which are found in the liver, remove LDL cholesterol from the blood. More than 70 percent of LDL cholesterol is removed from the blood by these receptors.
Hobbs and her colleagues found that defects in ARH impair the function of the LDLR and arrest the body's normal ability to clear LDL cholesterol. "We're confident that this is the gene responsible for ARH," said Hobbs. Hobbs was also part of the research team that, for the first time, identified a receptor for high-density lipoprotein (HDL) called SR-B1. It is the mechanism by which HDL, the "good cholesterol," is delivered to some cells.
Dr. Jonathan Cohen, co-author of the study, says, "These findings give us insight about how cells move cholesterol around and how the body gets rid of it. Once it's understood, we can manipulate the system more efficiently."
The study was funded by the National Institutes of Health, the W.M. Keck Foundation, the Perot Foundation and the Donald W. Reynolds Foundation.
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