A homozygous nonsense mutation (c.214C→A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

Journal of Medical Genetics

Volumn 48, Issue 4, 2011, Pages 219-225

  Nytofte, Nikolaj S ^a   Serrano, Maria A ^b   Monte, Maria J ^b   Gonzalez Sanchez, Ester ^b   Tumer, Zeynep ^c   Ladefoged, Karin ^a   Briz, Oscar ^d   Marin, Jose J G ^b  

^a Queen Ingrid's Hospital   (Greenland)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c Kennedy Centret   (Denmark)

^d HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; BILIRUBIN 9 ALPHA; BILIVERDIN; BILIVERDIN REDUCTASE ALPHA; BILIVERDIN REDUCTASE BETA; RNA; UNCLASSIFIED DRUG;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; ALLELE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILE; BILIARY TRACT SURGERY; BILIRUBIN BLOOD LEVEL; CASE REPORT; CHOLECYSTECTOMY; CHOLECYSTOLITHOTOMY; CHOLELITHIASIS; CHOLESTASIS; DISORDERS OF PORPHYRIN AND HEME METABOLISM; ENZYME ACTIVITY; FEMALE; GREENLAND; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERBILIRUBINEMIA; HYPERBILIVERDINEMIA; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; LIVER CELL; MILK; NONHUMAN; NONSENSE MUTATION; OOCYTE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; TANDEM MASS SPECTROMETRY; URINE LEVEL; XENOPUS LAEVIS;

ADULT; ANIMALS; BILIVERDINE; CHOLESTASIS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CLONING, MOLECULAR; CODON, NONSENSE; FEMALE; HUMANS; MILK; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNANCY; PREGNANCY COMPLICATIONS; XENOPUS;

XENOPUS LAEVIS;

EID: 79953728734     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.074567     Document Type: Article

References (28)

1. Ryter SW, Tyrrell RM. The heme synthesis and degradation pathways: role in oxidant sensitivity. Heme oxygenase has both pro- and antioxidant properties. Free Radic Biol Med 2000;28:289-309.
2. Yamaguchi T, Nakajima H. Changes in the composition of bilirubin-IX isomers during human prenatal development. Eur J Biochem 1995;233:467-72.
3. McCoubrey WK Jr, Cooklis MA, Maines MD. The structure, organization and differential expression of the rat gene encoding biliverdin reductase. Gene 1995;160:235-40.
4. Komuro A, Tobe T, Nakano Y, Yamaguchi T, Tomita M. Cloning and characterization of the cDNA encoding human biliverdin-IX alpha reductase. Biochim Biophys Acta 1996;1309:89-99.
5. Briz O, Macias RI, Perez MJ, Serrano MA, Marin JJ. Excretion of fetal biliverdin by the rat placenta-maternal liver tandem. Am J Physiol Regul Integr Comp Physiol 2006;290:R749-56.
6. Fevery J. Bilirubin in clinical practice: a review. Liver Int 2008;28:592-605.
7. Bosma PJ, Seppen J, Goldhoorn B, Bakker C, Oude Elferink RP, Chowdhury JR, Chowdhury NR, Jansen PL. Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 1994;269:17960-4.
8. McLean M, Bowman M, Clifton V, Smith R, Grossman AB. Expression of the heme oxygenase-carbon monoxide signalling system in human placenta. J Clin Endocrinol Metab 2000;85:2345-9.
9. Gourley GR. Bilirubin metabolism and kernicterus. Adv Pediatr 1997;44:173-229.
10. Baranano DE, Rao M, Ferris CD, Snyder SH. Biliverdin reductase: a major physiologic cytoprotectant. Proc Natl Acad Sci U S A 2002;99:16093-8.
11. Maghzal GJ, Leck MC, Collinson E, Li C, Stocker R. Limited role for the bilirubin-biliverdin redox amplification cycle in the cellular antioxidant protection by biliverdin reductase. J Biol Chem 2009;284:29251-9.
12. Greenberg AJ, Bossenmaier I, Schwartz S. Green jaundice. A study of serum biliverdin, mesobiliverdin and other green pigments. Am J Dig Dis 1971;16:873-80.
13. Larson EA, Evans GT, Watson CG. A study of the serum biliverdin concentration in various types of jaundice. J Lab Clin Med 1947;32:481-8.
14. Prichard JS. Biliverdin appearing in a case of malnutrition. Br J Clin Pract 1972;26:481-2.
15. Gafvels M, Holmstrom P, Somell A, Sjovall F, Svensson JO, Stahle L, Broome U, Stal P. A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice). Liver Int 2009;29:1116-24.
16. Niittynen M, Tuomisto JT, Auriola S, Pohjanvirta R, Syrjala P, Simanainen U, Viluksela M, Tuomisto J. 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-induced accumulation of biliverdin and hepatic peliosis in rats. Toxicol Sci 2003;71:112-23.
17. De Matteis F, Lord GA, Kee Lim C, Pons N. Bilirubin degradation by uncoupled cytochrome P450. Comparison with a chemical oxidation system and characterization of the products by high-performance liquid chromatography/electrospray ionization mass spectrometry. Rapid Commun Mass Spectrom 2006;20:1209-17.
18. Ye L, Liu S, Wang M, Shao Y, Ding M. High-performance liquid chromatographytandem mass spectrometry for the analysis of bile acid profiles in serum of women with intrahepatic cholestasis of pregnancy. J Chromatogr B Analyt Technol Biomed Life Sci 2007;860:10-17.
19. Laible M, Boonrod K. Homemade site directed mutagenesis of whole plasmids. J Vis Exp 2009 May 11;(27). pii:1135. doi:10.3791/1135.
20. Briz O, Serrano MA, Rebollo N, Hagenbuch B, Meier PJ, Koepsell H, Marin JJ. Carriers involved in targeting the cytostatic bile acid-cisplatin derivatives cisdiammine-chloro-cholylglycinate-platinum(II) and cis-diammine-bisursodeoxycholateplatinum( II) toward liver cells. Mol Pharmacol 2002;61:853-60.
21. Markwell MA, Haas SM, Bieber LL, Tolbert NE. A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples. Anal Biochem 1978;87:206-10.
22. Ridlon JM, Kang DJ, Hylemon PB. Bile salt biotransformations by human intestinal bacteria. J Lipid Res 2006;47:241-59.
23. Fenech FF, Bannister WH, Grech JL. Hepatitis with biliverdinaemia in association with indomethacin therapy. Br Med J 1967;3:155-6.
24. Tickner TR, Gutteridge JM. A simple colorimetric method for the estimation of plasma biliverdin. Clin Chim Acta 1978;85:125-9.
25. Kikuchi A, Park SY, Miyatake H, Sun D, Sato M, Yoshida T, Shiro Y. Crystal structure of rat biliverdin reductase. Nat Struct Biol 2001;8:221-5.
26. Whitby FG, Phillips JD, Hill CP, McCoubrey W, Maines MD. Crystal structure of a biliverdin IXalpha reductase enzyme-cofactor complex. J Mol Biol 2002;319:1199-210.
27. Maines MD. New insights into biliverdin reductase functions: linking heme metabolism to cell signaling. Physiology (Bethesda) 2005;20:382-9.
28. Blumenthal SG, Stucker T, Rasmussen RD, Ikeda RM, Ruebner BH, Bergstrom DE, Hanson FW. Changes in bilirubins in human prenatal development. Biochem J 1980;186:693-700.