APOA1 Gene

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Vicky Zhou	+ 420 word(s)	420	2020-12-15 07:44:35

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/apoa1

apolipoprotein A1. The APOA1 gene provides instructions for making a protein called apolipoprotein A-I (apoA-I).

genes

1. Normal Function

ApoA-I is a component of high-density lipoprotein (HDL). HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body.

ApoA-I attaches to cell membranes and promotes the movement of cholesterol and phospholipids from inside the cell to the outer surface. Once outside the cell, these substances combine with apoA-I to form HDL. ApoA-I also triggers a reaction called cholesterol esterification that converts cholesterol to a form that can be fully integrated into HDL and transported through the bloodstream.

HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. The process of removing excess cholesterol from cells is extremely important for balancing cholesterol levels and maintaining cardiovascular health.

2. Health Conditions Related to Genetic Changes

2.1. Familial HDL deficiency

Mutations in the APOA1 gene cause familial HDL deficiency, an inherited condition characterized by low levels of HDL in the blood and an elevated risk for early-onset cardiovascular disease, which often occurs before age 50. These mutations lead to an altered apoA-I protein. Some versions of the altered protein are less able to promote the removal of cholesterol and phospholipids from cells, which decreases the amount of these substances available to form HDL. Other versions of the altered protein are less able to stimulate cholesterol esterification, which means cholesterol cannot be integrated into HDL particles. Both types of mutation result in low HDL levels. A shortage (deficiency) of HDL is believed to increase the risk of cardiovascular disease.

2.2. Other disorders

Mutations in the APOA1 gene can also cause a condition called familial visceral amyloidosis, which is characterized by an abnormal accumulation of proteins (amyloidosis) in internal organs (viscera). The mutations that cause this condition alter the apoA-I protein. Abnormal apoA-I proteins stick together to form amyloid deposits that impair the function of the affected organs. The liver, kidneys, and heart are commonly affected by amyloidosis. Depending on the organs involved, the signs and symptoms of the condition vary. Affected individuals can have an enlarged liver (hepatomegaly), chronic kidney disease, or a form of heart disease called cardiomyopathy. However, in some people, the condition is very mild and causes no apparent signs or symptoms.

3. Other Names for This Gene

apo-AI
apoA-I
APOA1_HUMAN
apolipoprotein A-I

References

Batal R, Tremblay M, Krimbou L, Mamer O, Davignon J, Genest J Jr, Cohn JS.Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but notproapoA-I. Arterioscler Thromb Vasc Biol. 1998 Apr;18(4):655-64.
Chambenoit O, Hamon Y, Marguet D, Rigneault H, Rosseneu M, Chimini G. Specificdocking of apolipoprotein A-I at the cell surface requires a functional ABCA1transporter. J Biol Chem. 2001 Mar 30;276(13):9955-60.
Chroni A, Liu T, Gorshkova I, Kan HY, Uehara Y, Von Eckardstein A, Zannis VI. The central helices of ApoA-I can promote ATP-binding cassette transporter A1(ABCA1)-mediated lipid efflux. Amino acid residues 220-231 of the wild-typeApoA-I are required for lipid efflux in vitro and high density lipoproteinformation in vivo. J Biol Chem. 2003 Feb 28;278(9):6719-30.
Daum U, Leren TP, Langer C, Chirazi A, Cullen P, Pritchard PH, Assmann G, von Eckardstein A. Multiple dysfunctions of two apolipoprotein A-I variants,apoA-I(R160L)Oslo and apoA-I(P165R), that are associated withhypoalphalipoproteinemia in heterozygous carriers. J Lipid Res. 1999Mar;40(3):486-94.
Eriksson M, Schönland S, Yumlu S, Hegenbart U, von Hutten H, Gioeva Z, LohseP, Büttner J, Schmidt H, Röcken C. Hereditary apolipoprotein AI-associatedamyloidosis in surgical pathology specimens: identification of three novelmutations in the APOA1 gene. J Mol Diagn. 2009 May;11(3):257-62. doi:10.2353/jmoldx.2009.080161.
Oram JF. HDL apolipoproteins and ABCA1: partners in the removal of excesscellular cholesterol. Arterioscler Thromb Vasc Biol. 2003 May 1;23(5):720-7.
Rowczenio D, Dogan A, Theis JD, Vrana JA, Lachmann HJ, Wechalekar AD,Gilbertson JA, Hunt T, Gibbs SD, Sattianayagam PT, Pinney JH, Hawkins PN,Gillmore JD. Amyloidogenicity and clinical phenotype associated with five novelmutations in apolipoprotein A-I. Am J Pathol. 2011 Oct;179(4):1978-87. doi:10.1016/j.ajpath.2011.06.024.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :

Vicky Zhou

View Times: 367

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

Confirm