Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease

Atherosclerosis. 2012 Jun;222(2):299-306. doi: 10.1016/j.atherosclerosis.2011.11.034. Epub 2011 Nov 28.

Abstract

The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism. Genetic LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol levels. This paper reviews the genetic and biochemical features of LCAT deficiency, highlighting the absence of enhanced preclinical atherosclerosis in carriers, despite the remarkably low HDL cholesterol.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Animals
  • Cardiovascular Diseases / blood
  • Cardiovascular Diseases / enzymology
  • Cardiovascular Diseases / etiology*
  • Cardiovascular Diseases / genetics
  • Cholesterol Esters / blood
  • Cholesterol, HDL / blood
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hypoalphalipoproteinemias / blood
  • Hypoalphalipoproteinemias / enzymology
  • Hypoalphalipoproteinemias / etiology*
  • Hypoalphalipoproteinemias / genetics
  • Lecithin Cholesterol Acyltransferase Deficiency / blood
  • Lecithin Cholesterol Acyltransferase Deficiency / complications*
  • Lecithin Cholesterol Acyltransferase Deficiency / enzymology
  • Lecithin Cholesterol Acyltransferase Deficiency / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Phenotype
  • Phosphatidylcholine-Sterol O-Acyltransferase / genetics*
  • Risk Assessment
  • Risk Factors

Substances

  • Cholesterol Esters
  • Cholesterol, HDL
  • Phosphatidylcholine-Sterol O-Acyltransferase