Research advances in the mechanism of abnormal bile acid metabolism caused by gene mutation

Bo YI; Xue LI; Shanhong TANG

doi:10.3969/j.issn.1001-5256.2022.09.036

Volume 38 Issue 9

Sep. 2022

Turn off MathJax

Article Contents

Article Navigation > Journal of Clinical Hepatology > 2022 > 38(9): 2136-2140

PDF( 2375 KB)

Research advances in the mechanism of abnormal bile acid metabolism caused by gene mutation

DOI: 10.3969/j.issn.1001-5256.2022.09.036

Bo YI^{1, 2},
Xue LI^{2, 3},
Shanhong TANG^{2
,
,
,}

1.
Chengdu Medical College, Chengdu 610500, China
2.
Department of Gastroenterology, The General Hospital of Western Theater Command, Chengdu 610083, China
3.
School of Medicine and Life Science, Chengdu University of Traditional Chinese Medicine, Chengdu 610072, China

More Information

Corresponding author: TANG Shanhong, 15928956390@163.com(ORCID: 0000-0001-6652-2942)
Received Date: 2022-02-22
Accepted Date: 2022-04-28
Published Date: 2022-09-20

Abstract

Abstract

Bile acids are synthesized and catabolized by the liver, and many factors can lead to disorders in the production, secretion, and reabsorption of bile acids, thereby causing abnormal bile acid metabolism in vivo. Common predisposing factors include hepatitis, viruses, alcohol, drugs, biliary obstruction, and inheritance. It has been reported that abnormal bile acid metabolism is associated with transporter gene mutation, and in-depth studies have been conducted in China and globally. This article reviews the mechanism of abnormal bile acid metabolism caused by gene mutations and related research advances, so as to provide a new basis and new ideas for the diagnosis and treatment of such diseases.
- Bile Acids and Salts,
- Cholestasis,
- Metabolism,
- Mutation

FullText(HTML)

References(45)

References

[1]	CASTRO RE, RODRIGUES C. Cell death and microRNAs in cholestatic liver diseases: Update on potential therapeutic applications[J]. Curr Drug Targets, 2017, 18(8): 921-931. DOI: 10.2174/1389450116666151019102358.
[2]	YANG Y, ZHANG J. Bile acid metabolism and circadian rhythms[J]. Am J Physiol Gastrointest Liver Physiol, 2020, 319(5): G549-G563. DOI: 10.1152/ajpgi.00152.2020.
[3]	CHIANG J, FERRELL JM. Bile acid metabolism in liver pathobiology[J]. Gene Expr, 2018, 18(2): 71-87. DOI: 10.3727/105221618X15156018385515.
[4]	JIA W, WEI M, RAJANI C, et al. Targeting the alternative bile acid synthetic pathway for metabolic diseases[J]. Protein Cell, 2021, 12(5): 411-425. DOI: 10.1007/s13238-020-00804-9.
[5]	TICHO AL, MALHOTRA P, DUDEJA PK, et al. Intestinal absorption of bile acids in health and disease[J]. Compr Physiol, 2019, 10(1): 21-56. DOI: 10.1002/cphy.c190007.
[6]	ULZURRUN E, STEPHENS C, CRESPO E, et al. Role of chemical structures and the 1331T > C bile salt export pump polymorphism in idiosyncratic drug-induced liver injury[J]. Liver Int, 2013, 33(9): 1378-1385. DOI: 10.1111/liv.12193.
[7]	NAYAGAM JS, WILLIAMSON C, JOSHI D, et al. Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1[J]. Aliment Pharmacol Ther, 2020, 52(11-12): 1628-1639. DOI: 10.1111/apt.16118.
[8]	JETTER A, KULLAK-UBLICK GA. Drugs and hepatic transporters: A review[J]. Pharmacol Res, 2020, 154: 104234. DOI: 10.1016/j.phrs.2019.04.018.
[9]	DRÖGE C, BONUS M, BAUMANN U, et al. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants[J]. J Hepatol, 2017, 67(6): 1253-1264. DOI: 10.1016/j.jhep.2017.07.004.
[10]	FERREBEE CB, LI J, HAYWOOD J, et al. Organic solute transporter α-β protects ileal enterocytes from bile acid-induced injury[J]. Cell Mol Gastroenterol Hepatol, 2018, 5(4): 499-522. DOI: 10.1016/j.jcmgh.2018.01.006.
[11]	XIAO L, PAN G. An important intestinal transporter that regulates the enterohepatic circulation of bile acids and cholesterol homeostasis: The apical sodium-dependent bile acid transporter (SLC10A2/ASBT)[J]. Clin Res Hepatol Gastroenterol, 2017, 41(5): 509-515. DOI: 10.1016/j.clinre.2017.02.001.
[12]	van de PEPPEL IP, VERKADE HJ, JONKER JW. Metabolic consequences of ileal interruption of the enterohepatic circulation of bile acids[J]. Am J Physiol Gastrointest Liver Physiol, 2020, 319(5): G619-G625. DOI: 10.1152/ajpgi.00308.2020.
[13]	CHANG ZP, SHAO YY, CHENG Y, rt al. Research progress on expression regulation of apical sodium-dependent cholic acid transporter and its role in the pathogenesis of cholestatic diseases[J]. Shandong Med J, 2018, 58(23): 104-107. DOI: 10.3969/j.issn.1002-266X.2018.23.031. 常壮鹏, 邵云云, 程瑶, 等. 顶端钠依赖性胆酸转运体表达调控及在胆汁淤积性疾病发病中作用的研究进展[J]. 山东医药, 2018, 58(23): 104-107. DOI: 10.3969/j.issn.1002-266X.2018.23.031.
[14]	MALINEN MM, ALI I, BEZENÇON J, et al. Organic solute transporter OSTα/β is overexpressed in nonalcoholic steatohepatitis and modulated by drugs associated with liver injury[J]. Am J Physiol Gastrointest Liver Physiol, 2018, 314(5): G597-G609. DOI: 10.1152/ajpgi.00310.2017.
[15]	BEAUDOIN JJ, BEZENÇON J, SJÖSTEDT N, et al. Role of organic solute transporter alpha/beta in hepatotoxic bile acid transport and drug interactions[J]. Toxicol Sci, 2020, 176(1): 34-35. DOI: 10.1093/toxsci/kfaa052.
[16]	BEAUDOIN JJ, BROUWER K, MALINEN MM. Novel insights into the organic solute transporter alpha/beta, OSTα/β: From the bench to the bedside[J]. Pharmacol Ther, 2020, 211: 107542. DOI: 10.1016/j.pharmthera.2020.107542.
[17]	GAO E, CHEEMA H, WAHEED N, et al. Organic solute transporter alpha deficiency: a disorder with cholestasis, liver fibrosis, and congenital diarrhea[J]. Hepatology, 2020, 71(5): 1879-1882. DOI: 10.1002/hep.31087.
[18]	SULTAN M, RAO A, ELPELEG O, et al. Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis[J]. Hepatology, 2018, 68(2): 590-598. DOI: 10.1002/hep.29516.
[19]	DAWSON PA. Roles of ileal ASBT and OSTα-OSTβ in regulating bile acid signaling[J]. Dig Dis, 2017, 35(3): 261-266. DOI: 10.1159/000450987.
[20]	ANWER MS, STIEGER B. Sodium-dependent bile salt transporters of the SLC10A transporter family: more than solute transporters[J]. Pflugers Arch, 2014, 466(1): 77-89. DOI: 10.1007/s00424-013-1367-0.
[21]	LU X, LIU L, SHAN W, et al. The role of the sodium-taurocholate co-transporting polypeptide (NTCP) and bile salt export pump (BSEP) in related liver disease[J]. Curr Drug Metab, 2019, 20(5): 377-389. DOI: 10.2174/1389200220666190426152830.
[22]	VAZ FM, PAULUSMA CC, HUIDEKOPER H, et al. Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype[J]. Hepatology, 2015, 61(1): 260-267. DOI: 10.1002/hep.27240.
[23]	LI H, DENG M, GUO L, et al. Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c. 595A > C (p. Ser199Arg)[J]. Mol Med Rep, 2019, 20(6): 4915-4924. DOI: 10.3892/mmr.2019.10763.
[24]	BASEL-SALMON L, ORENSTEIN N, MARKUS-BUSTANI K, et al. Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested[J]. Genet Med, 2019, 21(6): 1443-1451. DOI: 10.1038/s41436-018-0343-7.
[25]	MAO F, LIU T, HOU X, et al. Increased sulfation of bile acids in mice and human subjects with sodium taurocholate cotransporting polypeptide deficiency[J]. J Biol Chem, 2019, 294(31): 11853-11862. DOI: 10.1074/jbc.RA118.007179.
[26]	TAN HJ, DENG M, QIU JW, et al. Monozygotic twins suffering from sodium taurocholate cotransporting polypeptide deficiency: a case report[J]. Front Pediatr, 2018, 6: 354. DOI: 10.3389/fped.2018.00354.
[27]	DONG C, ZHANG BP, WANG H, et al. Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients[J]. Medicine (Baltimore), 2019, 98(39): e17305. DOI: 10.1097/MD.0000000000017305.
[28]	TANG SH, ZENG WZ, ZENG JM, et al. A case of Rotor syndrome[J]. Chin Hepatol, 2016, 21(3): 231-232. DOI: 10.3969/j.issn.1008-1704.2016.03.022. 汤善宏, 曾维政, 曾建梅, 等. Rotor综合征1例[J]. 肝脏, 2016, 21(3): 231-232. DOI: 10.3969/j.issn.1008-1704.2016.03.022.
[29]	SCHNEIDER AL, KÖHLER H, RÖTHLISBERGER B, et al. Sodium taurocholate co-transporting polypeptide deficiency[J]. Clin Res Hepatol Gastroenterol, 2022, 46(3): 101824. DOI: 10.1016/j.clinre.2021.101824.
[30]	CLARE KE, MILLER MH, DILLON JF. Genetic factors influencing drug-induced liver injury: Do they have a role in prevention and diagnosis?[J]. Curr Hepatol Rep, 2017, 16(3): 258-264. DOI: 10.1007/s11901-017-0363-9.
[31]	FAN WL, SHIAO MS, HUI RC, et al. HLA association with drug-induced adverse reactions[J]. J Immunol Res, 2017, 2017: 3186328. DOI: 10.1155/2017/3186328.
[32]	CORDELL HJ, HAN Y, MELLS GF, et al. International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways[J]. Nat Commun, 2015, 6: 8019. DOI: 10.1038/ncomms9019.
[33]	MA WY, DENG ZH. Current status of immunogenetic studies on primary biliary cholangitis[J]. J Clin Hepatol, 2020, 36(4): 932-935. DOI: 10.3969/j.issn.1001-5256.2020.04.050. 马伟煜, 邓志华. 原发性胆汁性胆管炎的免疫遗传研究现状[J]. 临床肝胆病杂志, 2020, 36(4): 932-935. DOI: 10.3969/j.issn.1001-5256.2020.04.050.
[34]	WANG MJ, ZHONG XM, MA X, et al. Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis[J]. Chin J Contemp Pediatr, 2021, 23(1): 91-97. DOI: 10.7499/j.issn.1008-8830.2009079. 王美娟, 钟雪梅, 马昕, 等. 婴儿肝内胆汁淤积症患儿的临床特征及基因分析[J]. 中国当代儿科杂志, 2021, 23(1): 91-97. DOI: 10.7499/j.issn.1008-8830.2009079.
[35]	AMIRNENI S, HAEP N, GAD MA, et al. Molecular overview of progressive familial intrahepatic cholestasis[J]. World J Gastroenterol, 2020, 26(47): 7470-7484. DOI: 10.3748/wjg.v26.i47.7470.
[36]	TRAMPERT DC, van de GRAAF S, JONGEJAN A, et al. Hepatobiliary acid-base homeostasis: Insights from analogous secretory epithelia[J]. J Hepatol, 2021, 74(2): 428-441. DOI: 10.1016/j.jhep.2020.10.010.
[37]	CABRERA D, ARAB JP, ARRESE M. UDCA, NorUDCA, and TUDCA in liver diseases: a review of their mechanisms of action and clinical applications[J]. Handb Exp Pharmacol, 2019, 256: 237-264. DOI: 10.1007/164_2019_241.
[38]	European Association for the Study of the Liver (EASL). EASL clinical practice guidelines on the prevention, diagnosis and treatment of gallstones[J]. J Hepatol, 2016, 65(1): 146-181. DOI: 10.1016/j.jhep.2016.03.005.
[39]	BICOCCA MJ, SPERLING JD, CHAUHAN SP. Intrahepatic cholestasis of pregnancy: Review of six national and regional guidelines[J]. Eur J Obstet Gynecol Reprod Biol, 2018, 231: 180-187. DOI: 10.1016/j.ejogrb.2018.10.041.
[40]	YUAN Z, WANG G, QU J, et al. 9-cis-retinoic acid elevates MRP3 expression by inhibiting sumoylation of RXRα to alleviate cholestatic liver injury[J]. Biochem Biophys Res Commun, 2018, 503(1): 188-194. DOI: 10.1016/j.bbrc.2018.06.001.
[41]	HE H, MENNONE A, BOYER JL, et al. Combination of retinoic acid and ursodeoxycholic acid attenuates liver injury in bile duct-ligated rats and human hepatic cells[J]. Hepatology, 2011, 53(2): 548-557. DOI: 10.1002/hep.24047.
[42]	BAGHDASARYAN A, FUCHS CD, ÖSTERREICHER CH, et al. Inhibition of intestinal bile acid absorption improves cholestatic liver and bile duct injury in a mouse model of sclerosing cholangitis[J]. J Hepatol, 2016, 64(3): 674-681. DOI: 10.1016/j.jhep.2015.10.024.
[43]	ERICE O, MUNOZ-GARRIDO P, VAQUERO J, et al. MicroRNA-506 promotes primary biliary cholangitis-like features in cholangiocytes and immune activation[J]. Hepatology, 2018, 67(4): 1420-1440. DOI: 10.1002/hep.29533.
[44]	AFONSO MB, RODRIGUES PM, SIMÃO AL, et al. miRNA-21 ablation protects against liver injury and necroptosis in cholestasis[J]. Cell Death Differ, 2018, 25(5): 857-872. DOI: 10.1038/s41418-017-0019-x.
[45]	BOSMA PJ, WITS M, OUDE-ELFERINK RP. Gene therapy for progressive familial intrahepatic cholestasis: current progress and future prospects[J]. Int J Mol Sci, 2020, 22(1): 273. DOI: 10.3390/ijms22010273.

Relative Articles

Supplements(0)

Cited By

Proportional views

Proportional views

通讯作者: 陈斌, bchen63@163.com

1.
沈阳化工大学材料科学与工程学院沈阳 110142

Figures(1)

Get Citation

PDF

XML

Article Metrics

Article views (1044) PDF downloads(64)

Research advances in the mechanism of abnormal bile acid metabolism caused by gene mutation

DOI: 10.3969/j.issn.1001-5256.2022.09.036

Abstract

References

Proportional views

Catalog

通讯作者: 陈斌, bchen63@163.com

Article Metrics

Proportional views

Related

Research advances in the mechanism of abnormal bile acid metabolism caused by gene mutation

DOI: 10.3969/j.issn.1001-5256.2022.09.036

Abstract

References

Proportional views

Catalog

通讯作者: 陈斌, bchen63@163.com

Article Metrics

Proportional views

Related

About Journal

Submission Guideline

Journal Online

Hepatobiliary College

Guidelines

Export File

Citation

Format

Content