ACAT2
An In-Depth Exploration of ACAT2
Description
Acyl-CoA:cholesterol acyltransferase 2 (ACAT2) is an enzyme that plays a crucial role in cholesterol metabolism within cells. It is responsible for esterifying free cholesterol, converting it into cholesteryl esters and facilitating its storage in lipid droplets. This process is essential for maintaining cellular cholesterol homeostasis and preventing the accumulation of excess free cholesterol, which can be toxic to cells.
Associated Diseases
Defects in ACAT2 can lead to various health conditions, primarily related to lipid metabolism and cardiovascular disease:
- Cholesteryl ester storage disease (CESD): A rare genetic disorder caused by mutations in ACAT2 that impair its ability to esterify cholesterol. This leads to the accumulation of free cholesterol in tissues, resulting in liver dysfunction, muscle weakness, and premature atherosclerosis.
- Atherosclerosis: High levels of free cholesterol in the bloodstream can contribute to the formation of atherosclerotic plaques in arteries. ACAT2 dysfunction has been implicated in the progression of atherosclerosis, particularly in individuals with elevated LDL cholesterol and low HDL cholesterol.
- Fatty liver disease: Excessive free cholesterol accumulation in the liver can lead to non-alcoholic fatty liver disease (NAFLD) and, in severe cases, cirrhosis. ACAT2 deficiency has been associated with reduced liver steatosis and improved liver function in experimental models.
Did you Know ?
In individuals with low HDL cholesterol, which is often associated with an increased risk of cardiovascular disease, ACAT2 activity is found to be significantly higher than in those with normal HDL cholesterol levels. This suggests that ACAT2 inhibition could be a potential therapeutic target for preventing cardiovascular complications in this population.
