Diabetes: Absence of hormone-sensitive lipase associated with risk of T2DM

摘要

A loss-of-function mutation in the hormone-sensitive lipase (HSL) gene is associated with features of the metabolic syndrome, show the results of a new study. The researchers sequenced genes of the lipolytic pathway in 12 Amish individuals whose levels of triglycerides were either very high or very low. A frameshift deletion in the LIPE gene, which encodes HSL, was present in one of the participants who had high triglyceride levels. Further investigation in a group of 2,730 Amish individuals showed that carriers of the mutation had higher serum triglyceride levels, hepatic fat content and fasting insulin, and lower levels of HDL cholesterol than noncarriers.