Liver transplantation in a patient with sitosterolemia and cirrhosis

Gastroenterology

Volumn 130, Issue 2, 2006, Pages 542-547

  Miettinen, Tatu A ^a,d   Klett, Eric L ^b   Gylling, Helena ^c   Isoniemi, Helena ^a   Patel, Shailendra B ^b,e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d BIOMEDICUM HELSINKI   (Finland)

^e STR 541 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHYTOSTEROL;

ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHRONIC LIVER DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; GENETIC DISORDER; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LIPID BLOOD LEVEL; LIVER CIRRHOSIS; LIVER FUNCTION; LIVER TRANSPLANTATION; MALE; METABOLIC DISORDER; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SERODIAGNOSIS; SITOSTEROLEMIA; STEROL METABOLISM;

EID: 32044455530     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2005.10.022     Document Type: Article

References (24)

1. R. Schoenheimer Uber die Bedeutung der Pflanzensterine fur den tierischen Organismus Hoppe-Seyler's Z für Physiol Chem 180 1929 1 5
2. A.K. Bhattacharyya, W.E. Connor β-Sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters J Clin Invest 53 1974 1033 1043
3. T.H. Beaty, P. Kwiterovich Jr, M.J. Khoury Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia Am J Hum Genet 38 1986 492 504
4. I. Bjorkhem, K.M. Boberg Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic basis of inherited disease 7th ed. 1995 McGraw-Hill Inc New York 2073 2102
5. G. Salen, S. Shefer, L. Nguyen, G.C. Ness, G.S. Tint, V. Shore Sitosterolemia J Lipid Res 33 1992 945 955
6. G. Salen, S.B. Patel, A.K. Batta Sitosterolemia Cardiovasc Drug Rev 20 2002 255 270
7. T.A. Miettinen Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis Eur J Clin Invest 10 1980 27 35
8. S.B. Patel, G. Salen, H. Hidaka Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21 J Clin Invest 102 1998 1041 1044
9. M.-H. Lee, K. Lu, S. Hazard Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption Nat Genet 27 2001 79 83
10. K.E. Berge, H. Tian, G.A. Graf Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters Science 290 2000 1771 1775
11. G.A. Graf, J. Cohen, H.H. Hobbs Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking J Biol Chem 279 2004 24881 24888
12. G.A. Graf, W.P. Li, R.D. Gerard Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface J Clin Invest 110 2002 659 669
13. G.A. Graf, L. Yu, W.P. Li ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion J Biol Chem 278 2003 48275 48282
14. E.L. Klett, M.H. Lee, D.B. Adams, K.D. Chavin, S.B. Patel Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine BMC Gastroenterol 4 2004 21
15. E.L. Klett, K. Lu, A. Kosters A mouse model of sitosterolemia absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol BMC Med 2 2004 5
16. T. Plosch, V.W. Bloks, Y. Terasawa Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor Gastroenterology 126 2004 290 300
17. T.A. Miettinen Cholesterol metabolism during ketoconazole treatment in man J Lipid Res 29 1988 43 51
18. K. Lu, M.-H. Lee, S. Hazard Two genes that map to the STSL locus cause sitosterolemia genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively Am J Hum Genet 69 2001 278 290
19. K. Lu, M. Lee, S.B. Patel Dietary cholesterol absorption more than just bile Trends Endocrinol Metab 12 2001 314 320
20. E.L. Klett, S. Patel Genetic defenses against noncholesterol sterols Curr Opin Lipidol 14 2003 341 345
21. P.T. Clayton, A. Bowron, K.A. Mills, A. Massoud, M. Casteels, P.J. Milla Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease Gastroenterology 105 1993 1806 1813
22. K. Nikkila, K. Hockerstedt, T.A. Miettinen Serum and hepatic cholestanol, squalene and noncholesterol sterols in man a study on liver transplantation Hepatology 15 1992 863 870
23. G. Salen, K. von Bergmann, D. Lutjohann Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia Circulation 109 2004 966 971
24. W.J. Welch Role of quality control pathways in human diseases involving protein misfolding Semin Cell Dev Biol 15 2004 31 38