The role of ABCB4 gene in the pathogenesis of low phospholipid associated cholelithiasis
10.3760/cma.j.issn.1007-8118.2012.08.024
- VernacularTitle:ABCB4基因在低磷脂相关性胆石病发病机制中的作用
- Author:
Bo LI
- Publication Type:Journal Article
- Keywords:
Cholecystolithiasis;
Genes;
Phospholipids
- From:
Chinese Journal of Hepatobiliary Surgery
2012;18(8):646-648
- CountryChina
- Language:Chinese
-
Abstract:
The adenosine triphosphate-binding cassette subfamily member 4 (ABCB4) gene encodes multidrug resistance rotein 3 (MDR3),which is expressed on the cannalicular membranes of hepatocytes and translocates major phospholipids from the inner to the outer leaflet.Phospholipids are the major carrier and solvent of cholesterol,and in combination with bile salts form mixed micelles.Defects in ABCB4 function cause a low phospholipid content in bile,resulting in cholesterol supersaturation and crystal formation.Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and a low biliary phospholipid concentration,resulting in symptomatic gallstones starting before age 40 years,a high serum gamma glutamyl transferase (γ-GT) activity,intrahepatic microlithiasis,and recurrent biliary symptoms despite cholecystectomy.LPAC is an autosomal recessive condition caused by a rare single-gene mutation,commonly occurring in ABCB4,and can include homozygous and heterozygous point mutations in introns,coding exons,and 5 UTR regions.
