Question

What is deficient in the rare Tangier disease? Are HDL or VLDL low? Why does it lead to atherosclerosis?

a) Deficiency of ABCA1; HDL is low; Due to impaired reverse cholesterol transport
b) Deficiency of LCAT; VLDL is low; Due to excessive cholesterol synthesis
c) Deficiency of SR-B1; HDL is low; Due to increased LDL levels
d) Deficiency of CETP; VLDL is low; Due to reduced triglyceride synthesis

Answer 1

Tangier disease is characterized by a deficiency in the ABCA1 protein, leading to low HDL levels. This deficiency impairs reverse cholesterol transport and results in the development of atherosclerosis.

Step-by-step explanation:

Tangier disease is a rare genetic disorder characterized by a deficiency in the ABCA1 protein. This deficiency leads to a low or absence of HDL (high-density lipoprotein) in the body. HDL is responsible for mediating the reverse cholesterol transport, which helps remove excess cholesterol from peripheral tissues and transports it back to the liver.

Due to the impaired reverse cholesterol transport in Tangier disease, there is a buildup of cholesterol in peripheral tissues, including the arteries. This accumulation of cholesterol leads to the development of atherosclerosis, a condition characterized by the formation of plaque in the arterial walls. Atherosclerosis can increase the risk of various cardiovascular diseases, including heart attack and stroke.