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KURDISTAN REGIONAL GOVERNMENT

MINISTRY OF HIGHER EDUCATION AND
SCIENTIFIC RESEARCH
KOMAR UNIVERSITY OF SCIENCE AND TECHNOLOGY

FA2023 – Biochemistry & Lab

Tangier Disease Report

Prepared by:
Banoo Jalal aziz
Prusha
Lanya Farhad Aziz

SUPERVISING INSTRUCTOR:
Dr.Dlzar G. Ghafoor

Fall Semester 2023

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Introduction:-

Tangier disease is an autosomal recessive disorder and property of high-density lipoprotien

deficiency, sterol deposition in tissue macrophages , and prevalent atherosclerosis.mutation in
ABCA1 (ATP binding cassette transporter ) cause tangier disease and other familial HDL
deficiencies.A cellular pathway that secretes phospholipids and cholesterol to apolipoproteins
deficient in lipids is controlled by ABCA1.It indicates that the rapid break down of new
synthesised apolipoproteins and the excessive build-up of cholesterol in macrophages are caused
by their incapacity to absorb cellular lipids via the ABCA1 pathway.Therefore, ABCA1 is an
essential component therapeutic target for removing excess cholesterol from macrophages and
avoiding atherosclerosis because it regulates the flux of tissue cholesterol and phospholipids into
their reverse cholesterol transport system

Figure 1:-Tangier Disease: Familial High-Density Lipoprotein Deficiency.

ABCA1 Gene:-

The metabolism of cholesterol requires the ABCA1 gene. Patients with Tangier syndrome and
familial HDL deficiency have abnormalities in the cholesterol/phospholipid efflux protein,
ABCA1. These patients have defective reverse cholesterol transport, which involves the
mobilisation of cholesterol from peripheral sites and its subsequent return to the liver, as a result of
their incapacity to produce HDL. Given that ABCA1 is expressed in both the enterocyte basement
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membrane and the sinusoidal membrane of hepatocytes, it seems likely that it plays a role in the
efflux of phospholipids and cholesterol from the plasma membrane to the urothelial cell base.
ABCA1 was expressed in the lateral plasma membrane of polarised bladder epithelial cells that
were cultured.

Figure 2:Tangier disease and ABCA1

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REFERENCE :-

https://link.springer.com/chapter/10.1007/8904_2014_348
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