Lipc variant in combined hypocholesterolaemia


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Access through your institution Buy or subscribe Using next-generation sequencing, researchers have discovered a dominant, gain-of-function variant in _LIPC_ that underlies the combined


hypocholesterolaemia observed in four generations of a French family. Previously, only one gene (_ANGPTL3_) had been causally linked to this condition. Individuals carrying the E97G variant


in hepatic triacylglycerol lipase (LIPC) had very low plasma levels of LDL cholesterol, HDL cholesterol, LDL particle numbers and phospholipids. The variant specifically increases the


phospholipase activity of LIPC, promoting the catabolism of triglyceride-rich lipoproteins. “Our mechanistic data highlight the critical role of hepatic lipase phospholipase activity in LDL


cholesterol homeostasis and suggest a new LDL clearance mechanism,” conclude the investigators. This is a preview of subscription content, access via your institution ACCESS OPTIONS Access


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support REFERENCES ORIGINAL ARTICLE * Dijk, W. et al. Identification of a gain-of-function _LIPC_ variant as a novel cause of familial combined hypocholesterolemia. _Circulation_


https://doi.org/10.1161/CIRCULATIONAHA.121.057978 (2022) Article  PubMed  PubMed Central  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Nature Reviews


Cardiology http://www.nature.com/nrcardio/ Gregory B. Lim Authors * Gregory B. Lim View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR


Correspondence to Gregory B. Lim. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Lim, G.B. _LIPC_ variant in combined hypocholesterolaemia. _Nat Rev


Cardiol_ 19, 642 (2022). https://doi.org/10.1038/s41569-022-00765-y Download citation * Published: 17 August 2022 * Issue Date: October 2022 * DOI: https://doi.org/10.1038/s41569-022-00765-y


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