Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis

• Published in: Genes Vol. 13; no. 6; p. 1047
• Main Authors: Wang, Helen H., Portincasa, Piero, Liu, Min, Wang, David Q.-H.
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 11.06.2022; MDPI
• Subjects: Acids; Animal models; Animals; ATP Binding Cassette Transporter, Subfamily B - genetics; ATP-Binding Cassette Sub-Family B Member 4; Bile; Bile ducts; Cholecystectomy; cholelithiasis; Cholelithiasis - diagnosis; Cholelithiasis - genetics; Cholestasis; Cholesterol; Crystallization; Crystals; Disease; early diagnosis; gall bladder; Gallbladder; Gallbladder diseases; Gallstones; Gene therapy; genes; Genetic analysis; Genetic Testing; Glycoproteins; Hepatocytes; Humans; Lipid composition; Lipids; Liver; Mice; molecular biology; Mutation; Pathogenesis; Pathophysiology; Patients; Phospholipids; Physiology; Point mutation; Proteins; Review; Risk factors; Sludge; Sterols; micelle; bile acids; bile flow; gallstones; bile formation; gene mutations and variants; vesicle; ABC transporters; Lith genes; cholesterol crystallization; biliary lipid secretion; hepatocytes

Clinical studies have revealed that the ABCB4 gene encodes the phospholipid transporter on the canalicular membrane of hepatocytes, and its mutations and variants are the genetic basis of low phospholipid-associated cholelithiasis (LPAC), a rare type of gallstone disease caused by a single-gene muta...