Analysis of mice deficient in the bile acid biosynthetic enzyme 3(3-hydroxy-DELTA~5-C_(27)-steroid oxidoreductase (HSD3B7)

摘要

The conversion of cholesterol into bile acids is essential for the maintenance of cholesterol tiomeostasis, the regulation of hepatic function, and the absorption of fats and fat-soluble vitamins from the gastrointestinal tract. Inherited mutations that decrease the synthesis of bile acids or their transport cause a disorder beginning in infants and consisting of impairment of liver function due to decreased bile flow (neonatal cholestasis) and lipid and vitamin malabsorption. Research over the past three decades has led to the annotation of the pathways by which cholesterol is converted into conjugated bile acids in the liver1. At least 16 enzymes that catalyse 17 different reactions participate in these metabolic-pathways.