Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.

ABSTRACT:

Purpose of review

Lysosomal acid lipase (LAL), encoded by the LIPA gene, is an essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome. This review highlights the novel pathophysiological role of LAL, the functional genomic discoveries of LIPA as a risk locus for coronary heart diseases (CHD), and the clinical advance in therapies for LAL deficiency.

Recent findings

The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency. In humans, loss-of-function mutations of LIPA cause rare lysosomal disorders, Wolman disease, and cholesteryl ester storage disease, in which LAL enzyme replacement therapy has shown significant benefits in a phase 3 clinical trial. Recent studies have revealed th

SUBMITTER: Zhang H 

PROVIDER: S-EPMC6215475 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature