Cholesterol Enzyme Found on Lipid Droplets

Researchers have used labeled proteins in conjunction with confocal microscopy to show that the NSDHL (NAD(P)H steroid dehydrogenase-like) enzyme, which is involved in cholesterol synthesis, is located on the surface of endoplasmic reticulum derived lipid droplets.

Mutations in the gene that codes for NSDHL are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects), an X-linked, male lethal disorder. Investigators at Ohio State University (Columbus, USA) used a mouse model to determine the location of the enzyme among the cell's subcellular organelles. They reported in the November 15, 2003, issue of Human Molecular Genetics that in addition to being located in the endoplasmic reticulum, the common site for enzymes of post-squalene cholesterol biosynthesis, NSDHL was also found associated with lipid droplets, which are endoplasmic reticulum (ER)-derived cytoplasmic structures that contain a neutral lipid core.

"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,” explained senior author Dr. Gail Herman, professor of pediatrics at 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.”



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