Researchers Identify New Way Cells Regulate Cholesterol Production

Newswise — Researchers at Columbus Children's Research Institute (CCRI) on the campus of Columbus Children's Hospital have identified that the protein NSDHL, an enzyme involved in the synthesis of cholesterol (production of cholesterol), is found on the surface of lipid droplets (storage sites for cholesterol and fats in cells). These findings, published in the November 15, 2003, issue of Human Molecular Genetics, suggest there may be another way cells regulate cholesterol production and, consequently, the amount of cholesterol in cells of the body. This discovery has the potential to affect the development of pharmaceutical agents used to control high cholesterol, one of the leading causes of atherosclerosis and obesity.

The findings come as a result of investigations into the causes of rare genetic disorders resulting from the deficiency of specific proteins involved in the cholesterol biosynthesis process. "Cholesterol is necessary for the survival of all cells in the body, and research has now identified cholesterol as also being important in the development of a fetus," said Dr. Gail Herman, Director, Center for Molecular and Human Genetics, Columbus Children's Research Institute and Professor of Pediatrics, The Ohio State University.

"Using models, we identified genetic changes in enzymes that cause two of the disorders. While studying how the NSDHL protein works, we found that it coats the surface of lipid droplets," added Dr. Herman.

The NSDHL protein is the first human enzyme involved in cholesterol synthesis that has been found to be associated with lipid droplets. The protein is believed to function together with at least two other proteins, and Dr. Herman is now investigating the location of these other proteins within cells.

Columbus Children's Hospital ranks among the top 10 in National Institutes of Health research awards and grants to freestanding children's hospitals in the country. With nearly 500,000 patient visits each year, Children's Hospital is a 111-year-old pediatric healthcare network treating newborns through age 21. In 2002, the Columbus Children's Research Institute conducted more than 250 research projects and is the home of Centers of Emphasis encompassing gene therapy; molecular and human genetics; vaccines and immunity; childhood cancer; cell and vascular biology; developmental pharmacology and toxicology; injury research and policy; biopathology; microbial pathogenesis; and biobehavioral health. Pediatric Clinical Trials International (PCTI), a site management organization affiliated with the hospital, also coordinated more than 50 clinical trials. In addition to having one of the largest ambulatory programs in the country, Children's offers specialty programs and services. Each year, more than 75,000 consumers receive health and wellness education, and 2,000 students from 93 institutions and 500 residents receive training at Children's. More information on Children's Hospital of Columbus is available by calling (614) 722-KIDS (5437) or through the hospital's Web site at http://www.columbuschildrens.com.