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Journals / Acta Medica / 2019 / Cilt: 50 - Sayı: 4

Pathways and Inborn Errors of Bile Acid Synthesis

UFUK BOZKURT OBUZ
İNCİLAY LAY
Pages
48–56
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Laboratory analysis of urine profiling of bile acids is important in early diagnosis and early treatment.

📌 3 Key Takeaways

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Objective & Hypothesis:Bile acids are synthesized from cholesterol through 17 different enzymes located in different intracellular compartments of hepatocytes.
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Key Findings & Data:Defects have been identified in the genes encoding the enzymes involved in the bile acid synthesis pathways and nine different diseases have been identified so far.
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Conclusion & Impact:Laboratory analysis of urine profiling of bile acids is important in early diagnosis and early treatment.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Bile acids are synthesized from cholesterol through 17 different enzymes located in different intracellular compartments of hepatocytes. Defects have been identified in the genes encoding the enzymes involved in the bile acid synthesis pathways and nine different diseases have been identified so far. In this review, four different biosynthetic pathways of bile acids together with disorders of bile acid synthesis are described. In inborn errors of bile acid synthesis clinical findings can range from liver failure to cirrhosis in infancy or progressive neuropathy in adolescence / adulthood. Laboratory analysis of urine profiling of bile acids is important in early diagnosis and early treatment.

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Cite This Article

OBUZ, U. B., LAY, İ. (2019). Pathways and Inborn Errors of Bile Acid Synthesis. Acta Medica, Cilt: 50 - Sayı: 4, 48–56. https://ajindex.com/articles/142568

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References (14)

  1. Di Ciaula A, Garruti G, Lunardi Baccetto R, et al. Bile Acid Physiology. Ann Hepatol 2017; 16: 4-14
  2. Thomas C, Pellicciari R, Pruzanski M, et al. Targeting bile-acid signalling for metabolic diseases. Nat Rev Drug Discov 2008; 7(8): 678-93
  3. Ikegami T, Honda AN. Reciprocal interactions between bile acids and gut microbiota in human liver diseases. Hepatol Res 2018; 48(1): 15-27
  4. Martinot E, Sèdes L, Baptissart M, et al. Bile acids and their receptors. Mol Aspects Med 2017; 56: 2-9
  5. Prawitt J, Caron S, Staels B. Bile acid metabolism and the pathogenesis of type 2 diabetes. Curr Diab Rep 2011; 11(3): 160-6
  6. Degirolamo C, Rainaldi S, Bovenga F, et al. Microbiota modification with probiotics induces hepatic bile acid synthesis via downregulation of the Fxr-Fgf15 axis in mice. Cell Rep 2014; 10; 7(1): 12-8
  7. Pavlidis P, Powell N, Vincent RP, et al. Systematic review: bile acids and intestinal inflammation-luminal aggressors or regulators of mucosal defence? Aliment Pharmacol Ther 2015; 42(7): 802-17. [8]Chiang JYL, Ferrell JM. Bile Acid Metabolism in Liver Pathobiology. Gene Expr 2018; 18; 18(2): 71-87
  8. Eggert T, Bakonyi D, Hummel W. Enzymatic routes for the synthesis of ursodeoxycholic acid. J Biotechnol 2014; 10; 191:11-21
  9. Hofmann AF, Mysels KJ. Bile acid solubility and precipitation in vitro and in vivo: the role of conjugation, pH, and Ca2+ ions. J Lipid Res 1992; 33 (5): 617-26
  10. Walker IA, Nelson-Piercy C, Williamson C. Role of bile acid measurement in pregnancy. Ann Clin Biochem 2002; 39 (Pt 2):105-13. [12]Hofmann AF. The enterohepatic circulation of bile acids in mammals: form and functions. Front Biosci 2009; 14: 2584–2598
  11. Borelli G. De Motu animalium, Pars altera. Angeli Bernabo, Rome. English translation by P. Gosse, The Hague, Netherlands. 1743. Reprinted in 1989 by Springer, Berlin. 1681; 354–364
  12. Chiang JY. Recent advances in understanding bile acid homeostasis. F1000Res 2017; 20; 6: 2029
  13. Gonzalez FJ. Nuclear receptor control of enterohepatic circulation. Compr Physiol 2012; 2(4): 2811-28. [16]Mertens KL, Kalsbeek A, Soeters MR, et al. Bile Acid Signaling Pathways from the Enterohepatic Circulation to the Central Nervous System. Front Neurosci 2017; 7; 11: 617
  14. Dawson PA and Karpen SJ. Intestinal transport and metabolism of bile acids. J Lipid Res 2015; 56(6): 1085–1099. [18] Šarenac TM, Mikov M. Bile Acid Synthesis: From Nature to the Chemical Modification and Synthesis and Their Appli