Answer :
A deficiency in ATP-binding cassette transporter A1 (ABCA1) protein will reduce cholesterol efflux from peripheral tissues to high-density lipoprotein (HDL) particles.
- Cholesterol efflux is the process of transporting excess cholesterol out of cells, particularly those found in the peripheral tissues such as macrophages.
- HDL particles are the primary mediators of this process. HDL particles are known as good cholesterol because they help to remove excess cholesterol from the body and prevent the accumulation of cholesterol in the blood vessels.
- ABCA1 protein is responsible for cholesterol efflux from peripheral tissues to HDL particles. It is a transmembrane protein that transports excess cholesterol and phospholipids from peripheral tissues to lipid-poor apolipoprotein A1 (apoA1) acceptors, forming nascent HDL particles.
- When ABCA1 is deficient, peripheral tissues accumulate cholesterol, leading to atherosclerosis.
- ABCA1 deficiency is responsible for Tangier disease, a rare autosomal recessive disorder characterized by very low levels of HDL cholesterol in the blood.
- As a result, the accumulation of cholesterol and other lipids in macrophages causes enlarged orange tonsils, neuropathy, and corneal clouding. Treatment for Tangier disease involves the use of LDL-apheresis and plasma infusion to reduce plasma lipid levels.
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