Hereditary liver diseases;Hereditare Lebererkrankungen

Deutsche Medizinische Wochenschrift

Volumn 123, Issue 15, 1998, Pages 466-471

  Mohler M ^a,b   Wagner, V ^a,b   Stremmel, W ^a,b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTASIS; CRIGLER NAJJAR SYNDROME; DUBIN JOHNSON SYNDROME; FAMILIAL HYPERCHOLESTEROLEMIA; GAUCHER DISEASE; GENETIC SUSCEPTIBILITY; GILBERT DISEASE; HEMOPHILIA; HERITABILITY; HUMAN; HUNTER SYNDROME; PHENYLKETONURIA; REVIEW; WILSON DISEASE; ANIMAL; BLOOD; CYSTIC FIBROSIS; DISEASE MODEL; GENE THERAPY; GENETICS; INBORN ERROR OF METABOLISM; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER DISEASE; METABOLISM; MOLECULAR BIOLOGY;

ALPHA 1 ANTITRYPSIN; BILIRUBIN; TYROSINE;

ALPHA 1-ANTITRYPSIN; ANIMALS; BILIRUBIN; CHOLESTASIS, INTRAHEPATIC; CYSTIC FIBROSIS; DISEASE MODELS, ANIMAL; GENE THERAPY; HEPATOLENTICULAR DEGENERATION; HUMANS; JAUNDICE, CHRONIC IDIOPATHIC; LIVER DISEASES; METABOLISM, INBORN ERRORS; MOLECULAR BIOLOGY; TYROSINE;

EID: 0032499001     PISSN: 00120472     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-1023997     Document Type: Review

References (51)

1. Alton, E. W., P. G. Middleton, N. J. Caplen, S. N. Smith, D. M. Steel, F. M. Munkonge, P. K. Jeffery, D. M. Geddes, S. L. Hart, R. Williamson, K. I. Fasold, A. D. Miller, P. Dickinson, B. J. Stevenson, G. McLachlan, J. R. Dorin, D. J. Porteous: Non-invasive liposome-mediated gene delivery can correct the ion transport defect in cystic fibrosis mutant mice. Nat. Genet. 5 (1993), 135-142.
2. Arnell, H., A. Nemeth, G. Anneren, N. Dahl: Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22. Hum. Genet. 100 (1997), 378-381.
3. Askari, F. K., Y. Hitomi, M. Mao, J. M. Wilson: Complete correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome type I following transient in vivo adenovirus-mediated expression of human bilirubin-UDP-glucuronosyltransferase. Gene Ther. 3 (1996), 381-388.
4. Bosma, P. J., N. R. Chowdhury, B. G. Goldhoorn, M. H. Hofker, R. P. Oude Elferink, P. L. Jansen, J. R. Chowdhury: Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I. Hepatology 115 (1992), 941-947.
5. Bosma, P. J., J. R. Chowdhury, T. J. Huang, P. Lahiri, R. P. Oude Elferink, H. H. Van Es, M. Lederstein, P. F. Whitington, P. L. Jansen, N. R. Chowdhury: Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltranferase isoforms in two patients with Crigler-Najjar syndrome, type I. FASEB J. 6 (1992), 2859-2863.
6. Brantly, M., T. Nukiwa, R. G. Crystal: Molecular basis of α1-antitrypsin deficiency. Amer. J. Med. 84 (1988), 13-31.
7. Brinster, R. L.: Stem cells and transgenic mice in the study of development. Int. J. Dev. Biol. 37 (1993), 89-99.
8. Buchler, M., J. Konig, M. Brom, J. Kartenbeck, H. Spring, T. Horie, D. Keppler: cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats. J. Biol. Chem. 271 (1996), 15091-15098.
9. Bull, L. N., V. E. Charlton, N. L. Stricker, S. Baharloo, J. A. DeYoung, N. B. Freimer, M. S. Magid, E. Kahn, J. Markowitz, F. J. DiCarlo, L. McLoughlin, J. T. Boyle. B. B. Dahms, P. R. Faught, J. F. Fitzgerald, D. A. Piccoli, C. L. Witzleben, N. C O'Connell, K. D. Setchell, R. M. Jr Agostini, S. A. Kocoshis, J. Reyes, A. S. Knisely: Genetic and morphological findings in progressive familial interhepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 26 (1997), 155-164.
10. Cohn, J. A., T. V. Strong, M. R. Picciotto, A. C. Nairn, F. S. Collins, J. G. Fitz: Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells. Gastroenterology 105 (1993), 1857-1864.
11. Colledge, W. H., B. S. Abella, K. W. Southern, R. Ratcliff, C Jiang, S. H. Cheng, I. J. MacVinish, J. R. Anderson, A. W. Cuthbert, M. J. Evans: Generation and characterization of a delta F508 cystic fibrosis mouse model. Nat. Genet. 10 (1995), 445-452.
12. Constantini, F., K. Chad, J. Magram: Correction of murine β-thalassemia by gene transfer into the germ line. Science 233 (1986), 1192-1194.
13. Crystal, R. G., A. Jaffe, S. Brody, A. Mastrangeli, N. G. McElvaney, M. Rosenfeld, C. S. Chu, C. Danel, J. Hay, T. Eissa: A phase 1 study, in cystic fibrosis patients, of the safety, toxicity, and biological efficacy of a single administration of a replication deficient, recombinant adenovirus carrying the cDNA of the normal cystic fibrosis transmembrane conductance regulator gene in the lung. Hum. Gene Ther. 6 (1995), 643-666.
14. Dean, M., G. Santis: Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum. Genet. 93 (1994), 364-368.
15. Deleuze, J. F., E. Jacquemin, C. Dubuisson, D. Cresteil, M. Dumont, S. Erlinger, O. Bernard, M. Hadchouel: Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 23 (1996), 904-908.
16. Dorin, J. R., R. Farley, S. Webb, S. N. Smith, E. Farini, S. J. Delaney, B. J. Wainwright, E. W. Alton, D. J. Porteous: A demonstration using mouse models that successful gene therapy for cystic fibrosis requires onty partial gene correction. Gene Ther. 3 (1996), 797-801.
17. Flotte, T., B. Carter, C. Conrad, W. Guggino, T. Reynolds, B. Rosenstein, G. Taylor, S. Walden, R. Wetzel: A phase I study of an adeno-associated virus-CFTR gene vector in adult CF patients with mild lung disease. Hum. Gene Ther. 7 (1996), 1145-1159.
18. Freese, D. K., M. Tuchman, S. J. Schwarzenberg, H. L. Sharp, J. M. Rank, J. R. Bloomer, N. L. Ascher, W. D. Payne: Early liver transplantation is indicated for tyrosinemia type 1. J. Pediatr. Gastroenterol. Nutr. 13 (1991). 10-15.
19. Grompe, M., M. St-Louis, S. I. Demers, M. al-Dhalimy, B. Leclerc, R. M. Tanguay: A single mutation of the fumarylacetoacetate gene in French Canadians with hereditary tyrosinemia, type 1. New Engl. J. Med. 331 (1994), 353-357.
20. Grossman, M., S. E. Raper, K. Kozarsky, E. A. Stein, J. F. Engelhardt, D. Muller, P. J. Lupien, J. M. Wilson: Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolemia. Nature Genet. 6 (1994), 335-341.
21. Grossman, M., D. J. Rader, D. W. Muller, D. M. Kolansky, K. Kozarsky, B. J. Clark 3rd, E. A. Stein, P. J. Lupien, H. B. Brewer Jr., S. E. Raper, J. M. Wilson: A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia. Nature Med. 1 (1995), 1148-1154.
22. Grubman, S. A., S. L. Fang, A. E. Mulberg, R. D. Perrone, L. C. Rogers, D. W. Lee, D. Armentano, S. L. Murray, H. L. Dorkin, S. H. Cheng, A. E. Smith, D. M. Jefferson: Correction of the cystic fibrosis defect by gene complementation in human intrahepatic biliary epithelial cell lines. Gastroenterology 108 (1995), 584-592.
23. Holme, E., S. Lindstedt: Diagnosis and management of tyrosinemia type 1. Curr. Opin. Pediatr. 7 (1995), 726-732.
24. Kay, M. A., F. Graham, F. Leland, S. L. Woo: Therapeutic serum concentrations of human alpha-1-antitrypsin after adenoviral-mediated gene transfer into mouse hepatocytes. Hepatology 21 (1995), 815-819.
25. Keppler, D., J. Konig: Hepatic canalicular membrane 5: Expression and localization of the conjugate export pump encoded by the MRP2 (cMRP/cMOAT) gene in liver. FASEB J. 11 (1997), 509-516.
26. Kerem, E., M. Corey, B. S. Kerem, J. Rommens, D. Markiewicz, H. Levison, L. C. Tsui, P. Durie: The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (delta F508). New Engl. J. Med. 323 (1990), 1517-1522.
27. Kvittingen, E. A., H. Rootwelt, R. Berger, P. Brandtzaeg: Self-induced correction of the genetic defect in tyrosinemia type I. J. Clin. Invest, 94 (1994), 1657-1661.
28. Ledley, F. D.: Hepatic Gene Therapy: Present and Future. Hepatology 18 (1993), 1263-1273.
29. Li, J., B. Fang, R. C. Eisensmith, X. H. Li, I. Nasonkin, Y. C. Lee, M. P. Mims, A. Hughes, C. D. Montgomery, J. D. Roberts, T. S. Parker, D. M. Levine, S. L. C. Woo: In vivo gene therapy for hyperlipidemia: phenotypic correction in Watanabe rabbits by hepatic delivery of the rabbit LDL receptor gene. J. Clin. Invest. 95 (1995), 768-773.
30. Lindstedt, S., E. Holme, E. A. Lock, O. Hjalmarson, B. Strandvik: Treatment of hereditary tyrosinemia type 1 by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340 (1992), 813-817.
31. Long, G. L., T. Chandra, S. L. Woo, E. W. Davie, K. Kurachi: Complete nucleotide sequence for human α1-antitrypsin and the gene for the S variant. Biochemistry 23 (1984), 4828-4837.
32. Mackenzie, P. I., I. S. Owens, B. Burchell, K. W. Bock, A. Bairoch, A. Belanger, S. Fournel-Gigleux, M. Green, D. W. Hum, T. lyanagi, D. Lancet, P. Louisot, J. Magdalou, J. R. Chowdhury, J. K. Ritter, H. Schachter, T. R. Tephly, K. F. Tipton, D. W. Nebert: The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 7 (1997), 255-269.
33. Okuyama, T., R. M. Huber, W. Bowling, R. Pearline, S. C. Kennedy, M. W. Flye, K. P. Ponder: Liver-directed gene therapy: a retroviral vector with a complete LTR and the ApoE enhancer-α1-antitrypsin promoter dramatically increases expression of human α1-antitrypsin in vivo. Hum. Gene Ther. 7 (1996), 637-645.
34. Overturf, K., M. al-Dhalimy, C. N. Ou, M. Finegold, R. Tanguay, A. Lieber, M. Kay, M. Grompe: Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type 1. Hum. Gene. Ther. 8 (1997), 513-521.
35. Paulusma, C. C., P. J. Bosma, G. J. Zaman, C. T. Bakker, M. Otter, G. L. Scheffer, R. J. Scheper, P. Borst, R. P. Oude Elferink: Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 271 (1996), 1126-1128.
36. Petrukhin, K., S. G. Fischer, M. Pirastu, R. E. Tanzi, I. Chernov, M. Devoto, L. M. Brzustowicz, E. Cayanis, E. Vitale, J. J. Russo, D. Matseoane, B. Boukhgalter, W. Wasco, A. L. Figus, J. Loudianos, A. Cao, I. Sternlieb, O. Evgrafov, E. Parano, D. Warburton, J. Ott, G. K. Penchaszadeh, I. H. Scheinberg, T. C. Gilliam: Mapping, cloning and genetic characterization of the Wilson's disease region. Nature Genet. 5 (1993), 338-343.
37. Raper, S. E., M. Grossman, D. J. Rader. J. G. Thoene, B. J. Clark 3rd, D. M. Kolansky, D. W. Muller, J. M. Wilson: Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia. Ann. Surg, 223 (1996), 116-126.
38. Riordan, J. R., J. M. Rommens, B. Kerem, N. Alon, R. Rozmahel, Z. Grzelczak, J. Zielenski, S. Lok, N. Plavsic. J. L. Chou, M. L. Drumm, M. Clanuzzi, F. S. Collins, L. C. Tsui: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 (1989), 1066-1073.
39. Rootwelt, H., K. Hoie, R. Berger, E. A. Kvittingen: Fumarylacetoacetase mutations in tyrosinaemia type I. Hum. Mutat. 7 (1996), 239-243.
40. Rosenfeld, M. A., C. S. Chu, P. Seth, C. Danel, T. Bank, K. Yoneyama, K. Yoshimura, R. G. Crystal: Gene transfer to freshly isolated human respiratory epithelial cells in vitro using a replication-deficient adenovirus containing the human cystic fibrosis transmembrane conductance regulator cDNA. Hum. Gene Ther. 5 (1994), 331-342.
41. Smit, J. J., A. H. Schinkel, R. P. Oude Elferink, A. K. Groen, E. Wagenaar, L. van Deemter, C. A. Mol, R. Ottenhoff, N. M. van der Lugt, M. A. van Roon: Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 75 (1993), 451-462.
42. Snouwaert, J. N., K. K. Brigman, A. M. Latour, N. N. Malouf, R. C. Boucher, O. Smithies, B. H. Koller: An animal model for cystic fibrosis made by gene targeting. Science 257 (1992), 1083-1088.
43. Strautnieks, S. S, A. F. Kagalwalla, M. S.Tanner, A. S. Knisely, L. Bull, N. Freimer, S. A. Kocoshis, R. M. Gardiner, R. J.Thompson: Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Amer. J. Hum. Genet. 61 (1997), 630-633.
44. St Louis, M., B. Leclerc, J. Laine, M. K. Salo, C. Holmberg, R. M. Tanguay: Identification of a stop mutation in 5 Finnish families suffering from hereditary tyrosinemia type 1. Hum. Mol. Genet. 3 (1994), 69-72.
45. Stremmel, W., K. W. Meyerrose, C Niederau, H. Hefter, G. Kreuzpaintner, G. Strohmeyer: Wilson disease: clinical presentation, treatment, and survival. Ann. intern. Med. 115 (1991), 720-726.
46. Tanzi, R. E., K. Petrukhin, I. Chernov, J. L. Pellequer, W. Wasco, B. Ross, D. M. Romano, E. Parano, L. Pavone, L. M. Brzustowicz, M. Devoto, J. Peppercorn, A. I. Bush, I. Sternlieb, M. Pirastu, J. F. Gusella, O. Evgrafov, G. K. Penchaszadeh, B. Honig, I. S. Edelman, M. B. Soares, I. H. Scheinberg, T. C. Gilliam: Identification of the Wilson's disease gene: a copper transporting ATPase with homology to the Menkes's disease gene. Nature Genet. 5 (1993), 344-350.
47. Wada, M., S. Toh, K. Taniguchi, T. Nakamura, T. Uchiumi, K. Kohno, I. Yoshida, A. Kimura, S. Sakisaka, Y. Adachi, M. Kuwano: Mutations in the canalicular multispecific organic anion transporter (cMO-AT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. Hum. Mol. Genet. 7 (1998), 203-207.
48. Wilson, J. M., M. Grossman, S. E. Raper, J. R. Jr. Baker, R. S. Newton, J. G. Thoene: Ex vivo gene therapy of familial hypercholesterolemia. Hum. Gene Ther. 3 (1992), 179-222.
49. Wu, J., J. R. Forbes, H. S. Chen, D. W. Cox: The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nature Genet. 7 (1994), 541-545.
50. Yang, Y., S. E. Raper, J. A. Cohn, J. F. Engelhardt, J. M. Wilson: An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer. Proc. natl. Acad. Sci. USA 90 (1993), 4601-4605.
51. Yoshida, Y., Y. Tokusashi, G. H. Lee, K. Ogawa: Intrahepatic transplantation of normal hepatocytes prevents Wilson's disease in Long-Evans Cinnamon rats. Gastroenterology 111 (1996), 1654-1660.