Gene Replacement Therapy for Genetic Hepatocellular Jaundice

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• 作者：Remco van Dijk (1)
  Ulrich Beuers (1)
  Piter J. Bosma (1)
  
  1. Department of Gastroenterology and Hepatology ; Tytgat Institute for Liver and Intestinal Research ; Academic Medical Center ; S1-172 ; University of Amsterdam ; Meibergdreef 69 ; 1105BK ; Amsterdam ; The Netherlands
  
• 关键词：Genetic liver disorder ; Inherited hyperbilirubinaemia ; Jaundice ; Viral gene therapy
• 刊名：Clinical Reviews in Allergy & Immunology
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：48
• 期：2-3
• 页码：243-253
• 全文大小：267 KB
• 参考文献：1. Bissell, DM (1975) Formation and elimination of bilirubin. Gastroenterology 69: pp. 519-538
  2. Berk, PD, Howe, RB, Bloomer, JR, Berlin, NI (1969) Studies of bilirubin kinetics in normal adults. J Clin Invest 48: pp. 2176-2190
  3. Tenhunen, R, Marver, HS, Schmid, R (1968) The enzymatic conversion of heme to bilirubin by microsomal heme oxygenase. Proc Natl Acad Sci U S A 61: pp. 748-755
  4. Tenhunen, R, Marver, HS, Schmid, R (1970) The enzymatic catabolism of hemoglobin: stimulation of microsomal heme oxygenase by hemin. J Lab Clin Med 75: pp. 410-421
  5. Tenhunen, R, Ross, ME, Marver, HS, Schmid, R (1970) Reduced nicotinamide-adenine dinucleotide phosphate dependent biliverdin reductase: partial purification and characterization. Biochemistry 9: pp. 298-303
  6. Sorrentino, D, Berk, PD (1988) Mechanistic aspects of hepatic bilirubin uptake. Semin Liver Dis 8: pp. 119-136
  7. Tiribelli, C, Ostrow, JD (1993) New concepts in bilirubin chemistry, transport and metabolism: report of the Second International Bilirubin Workshop, April 9鈥?1, 1992, Trieste, Italy. Hepatology 17: pp. 715-736
  8. Schmid, R, McDonagh, AF (1975) The enzymatic formation of bilirubin. Ann N Y Acad Sci 244: pp. 533-552
  9. Dubin, IN, Johnson, FB (1954) Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. Medicine (Baltimore) 33: pp. 155-197
  10. Sprinz, H, Nelson, RS (1954) Persistent non-hemolytic hyperbilirubinemia associated with lipochrome-like pigment in liver cells: report of four cases. Ann Intern Med 41: pp. 952-962
  11. Swartz, HM, Sarna, T, Varma, RR (1979) On the natural and excretion of the hepatic pigment in the Dubin-Johnson syndrome. Gastroenterology 76: pp. 958-964
  12. Koskelo, P, Toivonen, I, Adlercreutz, H (1967) Urinary coproporphyrin isomer distribution in the Dubin-Johnson syndrome. Clin Chem 13: pp. 1006-1009
  13. Kondo, T, Kuchiba, K, Shimizu, Y (1976) Coproporphyrin isomers in Dubin-Johnson syndrome. Gastroenterology 70: pp. 1117-1120
  14. Paulusma, CC, Bosma, PJ, Zaman, GJ, Bakker, CT, Otter, M, Scheffer, GL, Scheper, RJ, Borst, P, Oude Elferink, RP (1996) Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 271: pp. 1126-1128
  15. Paulusma, CC, Kool, M, Bosma, PJ, Scheffer, GL, Ter, BF, Scheper, RJ, Tytgat, GN, Borst, P, Baas, F, Oude Elferink, RP (1997) A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology 25: pp. 1539-1542
  16. Keppler, D, Konig, J, Buchler, M (1997) The canalicular multidrug resistance protein, cMRP/MRP2, a novel conjugate export pump expressed in the apical membrane of hepatocytes. Adv Enzyme Regul 37: pp. 321-333
  17. Miller, DS, Nobmann, SN, Gutmann, H, Toeroek, M, Drewe, J, Fricker, G (2000) Xenobiotic transport across isolated brain microvessels studied by confocal microscopy. Mol Pharmacol 58: pp. 1357-1367
  18. Borst, P, Zelcer, N, Wetering, K (2006) MRP2 and 3 in health and disease. Cancer Lett 234: pp. 51-61
  19. Jedlitschky, G, Hoffmann, U, Kroemer, HK (2006) Structure and function of the MRP2 (ABCC2) protein and its role in drug disposition. Expert Opin Drug Metab Toxicol 2: pp. 351-366
  20. Dietrich, CG, Geier, A, Oude Elferink, RP (2003) ABC of oral bioavailability: transporters as gatekeepers in the gut. Gut 52: pp. 1788-1795
  21. Rotor AB, Manahan L, Florentin A (1948) Familial nonhemolytic jaundice with direct van den Bergh reaction. Acta Med Phil 5:37鈥?9
  22. Shimizu, Y, Naruto, H, Ida, S, Kohakura, M (1981) Urinary coproporphyrin isomers in Rotor鈥檚 syndrome: a study in eight families. Hepatology 1: pp. 173-178
  23. Wolpert, E, Pascasio, FM, Wolkoff, AW, Arias, IM (1977) Abnormal sulfobromophthalein metabolism in Rotor鈥檚 syndrome and obligate heterozygotes. N Engl J Med 296: pp. 1099-1101
  24. Steeg, E, Stranecky, V, Hartmannova, H, Noskova, L, Hrebicek, M, Wagenaar, E, Esch, A, Waart, DR, Oude Elferink, RP, Kenworthy, KE, Sticova, E, Al-Edreesi, M, Knisely, AS, Kmoch, S, Jirsa, M, Schinkel, AH (2012) Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest 122: pp. 519-528
  25. Hagenbuch, B, Gui, C (2008) Xenobiotic transporters of the human organic anion transporting polypeptides (OATP) family. Xenobiotica 38: pp. 778-801
  26. Konig, J, Cui, Y, Nies, AT, Keppler, D (2000) Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide. J Biol Chem 275: pp. 23161-23168
  27. Crigler, JF, Najjar, VA (1952) Congenital familial nonhemolytic jaundice with kernicterus. Pediatrics 10: pp. 169-180
  28. Sinaasappel, M, Jansen, PL (1991) The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis. Gastroenterology 100: pp. 783-789
  29. Arias, IM, Gartner, LM, Cohen, M, Ezzer, JB, Levi, AJ (1969) Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med 47: pp. 395-409
  30. Ritter, JK, Crawford, JM, Owens, IS (1991) Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J Biol Chem 266: pp. 1043-1047
  31. Ritter, JK, Chen, F, Sheen, YY, Tran, HM, Kimura, S, Yeatman, MT, Owens, IS (1992) A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J Biol Chem 267: pp. 3257-3261
  32. Gong, QH, Cho, JW, Huang, T, Potter, C, Gholami, N, Basu, NK, Kubota, S, Carvalho, S, Pennington, MW, Owens, IS, Popescu, NC (2001) Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 11: pp. 357-368
  33. Bosma, PJ, Seppen, J, Goldhoorn, B, Bakker, C, Oude Elferink, RP, Chowdhury, JR, Chowdhury, NR, Jansen, PL (1994) Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 269: pp. 17960-17964
  34. Aono, S, Yamada, Y, Keino, H, Hanada, N, Nakagawa, T, Sasaoka, Y, Yazawa, T, Sato, H, Koiwai, O (1993) Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 197: pp. 1239-1244
  35. Ritter, JK, Yeatman, MT, Ferreira, P, Owens, IS (1992) Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. J Clin Invest 90: pp. 150-155
  36. Bosma, PJ, Chowdhury, NR, Goldhoorn, BG, Hofker, MH, Oude Elferink, RP, Jansen, PL, Chowdhury, JR (1992) 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 15: pp. 941-947
  37. Canu, G, Minucci, A, Zuppi, C, Capoluongo, E (2013) Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database. Blood Cells Mol Dis 50: pp. 273-280
  38. Meulengracht, E (1947) A review of chronic intermittent juvenile jaundice. Q J Med 16: pp. 83-98
  39. Gilbert, ALP (1901) La cholamae simple familiale. Sem Med 21: pp. 241
  40. Bosma, PJ, Chowdhury, JR, Bakker, C, Gantla, S, Boer, A, Oostra, BA, Lindhout, D, Tytgat, GN, Jansen, PL, Oude Elferink, RP (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert鈥檚 syndrome. N Engl J Med 333: pp. 1171-1175
  41. Raijmakers, MT, Jansen, PL, Steegers, EA, Peters, WH (2000) Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene. J Hepatol 33: pp. 348-351
  42. Black, M, Billing, BH (1968) 鈥業n vitro鈥?assay of bilirubin-UDP glucuronyl transferase activity in the liver of patients with Gilbert鈥檚 syndrome and a variety of hepatic disorders. Gut 9: pp. 728-729
  43. Black, M, Billing, BH (1969) Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and Gilbert鈥檚 syndrome. N Engl J Med 280: pp. 1266-1271
  44. Monaghan, G, Ryan, M, Seddon, R, Hume, R, Burchell, B (1996) Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert鈥檚 syndrome. Lancet 347: pp. 578-581
  45. Hall, D, Ybazeta, G, Destro-Bisol, G, Petzl-Erler, ML, Di, RA (1999) Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primates. Pharmacogenetics 9: pp. 591-599
  46. Sato, H, Adachi, Y, Koiwai, O (1996) The genetic basis of Gilbert鈥檚 syndrome. Lancet 347: pp. 557-558
  47. Soeda, Y, Yamamoto, K, Adachi, Y, Hori, T, Aono, S, Koiwai, O, Sato, H (1995) Predicted homozygous mis-sense mutation in Gilbert鈥檚 syndrome. Lancet 346: pp. 1494
  48. Miners, JO, Mackenzie, PI (1991) Drug glucuronidation in humans. Pharmacol Ther 51: pp. 347-369
  49. Ghosal, A, Hapangama, N, Yuan, Y, Achanfuo-Yeboah, J, Iannucci, R, Chowdhury, S, Alton, K, Patrick, JE, Zbaida, S (2004) Identification of human UDP-glucuronosyltransferase enzyme(s) responsible for the glucuronidation of ezetimibe (Zetia). Drug Metab Dispos 32: pp. 314-320
  50. Ebner, T, Remmel, RP, Burchell, B (1993) Human bilirubin UDP-glucuronosyltransferase catalyzes the glucuronidation of ethinylestradiol. Mol Pharmacol 43: pp. 649-654
  51. McGill, MR, Jaeschke, H (2013) Metabolism and disposition of acetaminophen: recent advances in relation to hepatotoxicity and diagnosis. Pharm Res 30: pp. 2174-2187
  52. Prueksaritanont, T, Subramanian, R, Fang, X, Ma, B, Qiu, Y, Lin, JH, Pearson, PG, Baillie, TA (2002) Glucuronidation of statins in animals and humans: a novel mechanism of statin lactonization. Drug Metab Dispos 30: pp. 505-512
  53. Tukey, RH, Strassburg, CP, Mackenzie, PI (2002) Pharmacogenomics of human UDP-glucuronosyltransferases and irinotecan toxicity. Mol Pharmacol 62: pp. 446-450
  54. Innocenti, F, Undevia, SD, Iyer, L, Chen, PX, Das, S, Kocherginsky, M, Karrison, T, Janisch, L, Ramirez, J, Rudin, CM, Vokes, EE, Ratain, MJ (2004) Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol 22: pp. 1382-1388
  55. Innocenti, F, Ratain, MJ (2003) Irinotecan treatment in cancer patients with UGT1A1 polymorphisms. Oncology (Williston Park) 17: pp. 52-55
  56. Zucker, SD, Qin, X, Rouster, SD, Yu, F, Green, RM, Keshavan, P, Feinberg, J, Sherman, KE (2001) Mechanism of indinavir-induced hyperbilirubinemia. Proc Natl Acad Sci U S A 98: pp. 12671-12676
  57. Lankisch, TO, Behrens, G, Ehmer, U, Mobius, U, Rockstroh, J, Wehmeier, M, Kalthoff, S, Freiberg, N, Manns, MP, Schmidt, RE, Strassburg, CP (2009) Gilbert鈥檚 syndrome and hyperbilirubinemia in protease inhibitor therapy鈥攁n extended haplotype of genetic variants increases risk in indinavir treatment. J Hepatol 50: pp. 1010-1018
  58. Shapiro, SM, Bhutani, VK, Johnson, L (2006) Hyperbilirubinemia and kernicterus. Clin Perinatol 33: pp. 387-410
  59. Watchko, JF, Tiribelli, C (2013) Bilirubin-induced neurologic damage鈥攎echanisms and management approaches. N Engl J Med 369: pp. 2021-2030
  60. Poddar, B, Bharti, B, Goraya, J, Parmar, VR (2002) Kernicterus in a child with Crigler-Najjar syndrome type II. Trop Gastroenterol 23: pp. 33-34
  61. Cremer, RJ, Perryman, PW, Richards, DH (1958) Influence of light on the hyperbilirubinaemia of infants. Lancet 1: pp. 1094-1097
  62. Ennever, JF (1990) Blue light, green light, white light, more light: treatment of neonatal jaundice. Clin Perinatol 17: pp. 467-481
  63. Zenone, EA, Stoll, MS, Ostrow, JD (1982) The effect of elimination of environmental light on the metabolism of unconjugated bilirubin in the Gunn rat. Dig Dis Sci 27: pp. 1117-1120
  64. Stoll, MS, Zenone, EA, Ostrow, JD (1981) Excretion of administered and endogenous photobilirubins in the bile of the jaundice Gunn rat. J Clin Invest 68: pp. 134-141
  65. Veere, CN, Sinaasappel, M, McDonagh, AF, Rosenthal, P, Labrune, P, Odievre, M, Fevery, J, Otte, JB, McClean, P, Burk, G, Masakowski, V, Sperl, W, Mowat, AP, Vergani, GM, Heller, K, Wilson, JP, Shepherd, R, Jansen, PL (1996) Current therapy for Crigler-Najjar syndrome type 1: report of a world registry. Hepatology 24: pp. 311-315
  66. Veere, CN, Schoemaker, B, Bakker, C, Meer, R, Jansen, PL, Elferink, RP (1996) Influence of dietary calcium phosphate on the disposition of bilirubin in rats with unconjugated hyperbilirubinemia. Hepatology 24: pp. 620-626
  67. Stoll, MS Phototherapy of jaundice. In: Ostrow, JD eds. (1986) Bile pigments and jaundice. Raven, New York, pp. 551-580
  68. Yohannan, MD, Terry, HJ, Littlewood, JM (1983) Long term phototherapy in Crigler-Najjar syndrome. Arch Dis Child 58: pp. 460-462
  69. Strauss, KA, Robinson, DL, Vreman, HJ, Puffenberger, EG, Hart, G, Morton, DH (2006) Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease. Eur J Pediatr 165: pp. 306-319
  70. Muiesan, P, Vergani, D, Mieli-Vergani, G (2007) Liver transplantation in children. J Hepatol 46: pp. 340-348
  71. Fox, IJ, Chowdhury, JR, Kaufman, SS, Goertzen, TC, Chowdhury, NR, Warkentin, PI, Dorko, K, Sauter, BV, Strom, SC (1998) Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. N Engl J Med 338: pp. 1422-1426
  72. Ambrosino, G, Varotto, S, Strom, SC, Guariso, G, Franchin, E, Miotto, D, Caenazzo, L, Basso, S, Carraro, P, Valente, ML, D鈥橝mico, D, Zancan, L, D鈥橝ntiga, L (2005) Isolated hepatocyte transplantation for Crigler-Najjar syndrome type 1. Cell Transplant 14: pp. 151-157
  73. Lysy, PA, Najimi, M, Stephenne, X, Bourgois, A, Smets, F, Sokal, EM (2008) Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. World J Gastroenterol 14: pp. 3464-3470
  74. Kaufmann, KB, Buning, H, Galy, A, Schambach, A, Grez, M (2013) Gene therapy on the move. EMBO Mol Med 5: pp. 1642-1661
  75. Blaese, RM, Culver, KW, Miller, AD, Carter, CS, Fleisher, T, Clerici, M, Shearer, G, Chang, L, Chiang, Y, Tolstoshev, P, Greenblatt, JJ, Rosenberg, SA, Klein, H, Berger, M, Mullen, CA, Ramsey, WJ, Muul, L, Morgan, RA, Anderson, WF (1995) T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science 270: pp. 475-480
  76. Gaspar, HB, Thrasher, AJ (2005) Gene therapy for severe combined immunodeficiencies. Expert Opin Biol Ther 5: pp. 1175-1182
  77. Cavazzana-Calvo, M, Fischer, A, Hacein-Bey-Abina, S, Aiuti, A (2012) Gene therapy for primary immunodeficiencies: part 1. Curr Opin Immunol 24: pp. 580-584
  78. Putten, H, Quint, W, Raaij, J, Maandag, ER, Verma, IM, Berns, A (1981) M-MuLV-induced leukemogenesis: integration and structure of recombinant proviruses in tumors. Cell 24: pp. 729-739
  79. Cavazza, A, Moiani, A, Mavilio, F (2013) Mechanisms of retroviral integration and mutagenesis. Hum Gene Ther 24: pp. 119-131
  80. Montini, E, Cesana, D, Schmidt, M, Sanvito, F, Bartholomae, CC, Ranzani, M, Benedicenti, F, Sergi, LS, Ambrosi, A, Ponzoni, M, Doglioni, C, Serio, C, Kalle, C, Naldini, L (2009) The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy. J Clin Invest 119: pp. 964-975
  81. Sibbald, B (2001) Death but one unintended consequence of gene-therapy trial. CMAJ 164: pp. 1612
  82. Peng, Z (2005) Current status of gendicine in China: recombinant human Ad-p53 agent for treatment of cancers. Hum Gene Ther 16: pp. 1016-1027
  83. Wilson, JM (2005) Gendicine: the first commercial gene therapy product. Hum Gene Ther 16: pp. 1014-1015
  84. Sheridan, C (2011) Gene therapy finds its niche. Nat Biotechnol 29: pp. 121-128
  85. Hoggan, MD, Blacklow, NR, Rowe, WP (1966) Studies of small DNA viruses found in various adenovirus preparations: physical, biological, and immunological characteristics. Proc Natl Acad Sci U S A 55: pp. 1467-1474
  86. Schnepp, BC, Jensen, RL, Chen, CL, Johnson, PR, Clark, KR (2005) Characterization of adeno-associated virus genomes isolated from human tissues. J Virol 79: pp. 14793-14803
  87. Gaudet, D, Wal, J, Tremblay, K, Dery, S, Deventer, S, Freidig, A, Brisson, D, Methot, J (2010) Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency. Atheroscler Suppl 11: pp. 55-60
  88. Buning, H (2013) Gene therapy enters the pharma market: the short story of a long journey. EMBO Mol Med 5: pp. 1-3
  89. Gao, G, Vandenberghe, LH, Wilson, JM (2005) New recombinant serotypes of AAV vectors. Curr Gene Ther 5: pp. 285-297
  90. Mingozzi, F, High, KA (2011) Immune responses to AAV in clinical trials. Curr Gene Ther 11: pp. 321-330
  91. Nathwani, AC, Tuddenham, EG, Rangarajan, S, Rosales, C, McIntosh, J, Linch, DC, Chowdary, P, Riddell, A, Pie, AJ, Harrington, C, O鈥橞eirne, J, Smith, K, Pasi, J, Glader, B, Rustagi, P, Ng, CY, Kay, MA, Zhou, J, Spence, Y, Morton, CL, Allay, J, Coleman, J, Sleep, S, Cunningham, JM, Srivastava, D, Basner-Tschakarjan, E, Mingozzi, F, High, KA, Gray, JT, Reiss, UM, Nienhuis, AW, Davidoff, AM (2011) Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 365: pp. 2357-2365
  92. Miranda, PS, Bosma, PJ (2009) Towards liver-directed gene therapy for Crigler-Najjar syndrome. Curr Gene Ther 9: pp. 72-82
  93. Gunn, CK (1944) Hereditary acholuric jaundice in the rat. Can Med Assoc J 50: pp. 230-237
  94. Schmid, R, Axelrod, J, Hammaker, L, Swarm, RL (1958) Congenital jaundice in rats, due to a defect in glucuronide formation. J Clin Invest 37: pp. 1123-1130
  95. Chowdhury, NR, Arias, IM, Lederstein, M, Chowdhury, JR (1986) Substrates and products of purified rat liver bilirubin UDP-glucuronosyltransferase. Hepatology 6: pp. 123-128
  96. Tada, K, Roy-Chowdhury, N, Prasad, V, Kim, BH, Manchikalapudi, P, Fox, IJ, Duijvendijk, P, Bosma, PJ, Roy-Chowdhury, J (1998) Long-term amelioration of bilirubin glucuronidation defect in Gunn rats by transplanting genetically modified immortalized autologous hepatocytes. Cell Transplant 7: pp. 607-616
  97. Branchereau, S, Ferry, N, Myara, A, Sato, H, Kowai, O, Trivin, F, Houssin, D, Danos, O, Heard, J (1993) Correction of bilirubin glucuronyl transferase in Gunn rats by gene transfer in the liver using retroviral vectors. Chirurgie 119: pp. 642-648
  98. Wegen, P, Louwen, R, Imam, AM, Buijs-Offerman, RM, Sinaasappel, M, Grosveld, F, Scholte, BJ (2006) Successful treatment of UGT1A1 deficiency in a rat model of Crigler-Najjar disease by intravenous administration of a liver-specific lentiviral vector. Mol Ther 13: pp. 374-381
  99. Seppen, J, Bakker, C, Jong, B, Kunne, C, Oever, K, Vandenberghe, K, Waart, R, Twisk, J, Bosma, P (2006) Adeno-associated virus vector serotypes mediate sustained correction of bilirubin UDP glucuronosyltransferase deficiency in rats. Mol Ther 13: pp. 1085-1092
  100. Montenegro-Miranda, PS, Paneda, A, Ten, BL, Duijst, S, Waart, DR, Aseguinolaza, GG, Bosma, PJ (2013) Adeno-associated viral vector serotype 5 poorly transduces liver in rat models. PLoS One 8: pp. e82597
  101. Montenegro-Miranda, PS, Pichard, V, Aubert, D, Ten, BL, Duijst, S, Waart, DR, Ferry, N, Bosma, PJ (2014) In the rat liver, adenoviral gene transfer efficiency is comparable to AAV. Gene Ther 21: pp. 168-174
  102. Philipp, T, Durazzo, M, Trautwein, C, Alex, B, Straub, P, Lamb, JG, Johnson, EF, Tukey, RH, Manns, MP (1994) Recognition of uridine diphosphate glucuronosyl transferases by LKM-3 antibodies in chronic hepatitis D. Lancet 344: pp. 578-581
  103. Strassburg, CP, Obermayer-Straub, P, Alex, B, Durazzo, M, Rizzetto, M, Tukey, RH, Manns, MP (1996) Autoantibodies against glucuronosyltransferases differ between viral hepatitis and autoimmune hepatitis. Gastroenterology 111: pp. 1576-1586
  104. Bachrich, T, Thalhammer, T, Jager, W, Haslmayer, P, Alihodzic, B, Bakos, S, Hitchman, E, Senderowicz, AM, Penner, E (2001) Characterization of autoantibodies against uridine-diphosphate glucuronosyltransferase in patients with inflammatory liver diseases. Hepatology 33: pp. 1053-1059
  105. Keitel, V, Burdelski, M, Vojnisek, Z, Schmitt, L, Haussinger, D, Kubitz, R (2009) De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. Hepatology 50: pp. 510-517
  106. Astermark, J (2006) Basic aspects of inhibitors to factors VIII and IX and the influence of non-genetic risk factors. Haemophilia 12: pp. 8-13
  107. Seppen, J, Til, NP, Rijt, R, Hiralall, JK, Kunne, C, Elferink, RP (2006) Immune response to lentiviral bilirubin UDP-glucuronosyltransferase gene transfer in fetal and neonatal rats. Gene Ther 13: pp. 672-677
  108. Takahashi, M, Ilan, Y, Chowdhury, NR, Guida, J, Horwitz, M, Chowdhury, JR (1996) Long term correction of bilirubin-UDP-glucuronosyltransferase deficiency in Gunn rats by administration of a recombinant adenovirus during the neonatal period. J Biol Chem 271: pp. 26536-26542
  109. Askari, FK, Hitomi, Y, Mao, M, Wilson, JM (1996) 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: pp. 381-388
  110. Gao, G, Lebherz, C, Weiner, DJ, Grant, R, Calcedo, R, McCullough, B, Bagg, A, Zhang, Y, Wilson, JM (2004) Erythropoietin gene therapy leads to autoimmune anemia in macaques. Blood 103: pp. 3300-3302
  111. Chenuaud, P, Larcher, T, Rabinowitz, JE, Provost, N, Cherel, Y, Casadevall, N, Samulski, RJ, Moullier, P (2004) Autoimmune anemia in macaques following erythropoietin gene therapy. Blood 103: pp. 3303-3304
  112. LoDuca, PA, Hoffman, BE, Herzog, RW (2009) Hepatic gene transfer as a means of tolerance induction to transgene products. Curr Gene Ther 9: pp. 104-114
  113. Montenegro-Miranda, PS, Ten, BL, Kunne, C, Waart, DR, Bosma, PJ (2011) Mycophenolate mofetil impairs transduction of single-stranded adeno-associated viral vectors. Hum Gene Ther 22: pp. 605-612
  114. Brantly, ML, Chulay, JD, Wang, L, Mueller, C, Humphries, M, Spencer, LT, Rouhani, F, Conlon, TJ, Calcedo, R, Betts, MR, Spencer, C, Byrne, BJ, Wilson, JM, Flotte, TR (2009) Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy. Proc Natl Acad Sci U S A 106: pp. 16363-16368
  115. Brantly, ML, Spencer, LT, Humphries, M, Conlon, TJ, Spencer, CT, Poirier, A, Garlington, W, Baker, D, Song, S, Berns, KI, Muzyczka, N, Snyder, RO, Byrne, BJ, Flotte, TR (2006) Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults. Hum Gene Ther 17: pp. 1177-1186
  116. Flotte, TR, Trapnell, BC, Humphries, M, Carey, B, Calcedo, R, Rouhani, F, Campbell-Thompson, M, Yachnis, AT, Sandhaus, RA, McElvaney, NG, Mueller, C, Messina, LM, Wilson, JM, Brantly, M, Knop, DR, Ye, GJ, Chulay, JD (2011) Phase 2 clinical trial of a recombinant adeno-associated viral vector expressing alpha1-antitrypsin: interim results. Hum Gene Ther 22: pp. 1239-1247
  117. Worgall, S, Sondhi, D, Hackett, NR, Kosofsky, B, Kekatpure, MV, Neyzi, N, Dyke, JP, Ballon, D, Heier, L, Greenwald, BM, Christos, P, Mazumdar, M, Souweidane, MM, Kaplitt, MG, Crystal, RG (2008) Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum Gene Ther 19: pp. 463-474
  118. Wagner, JA, Reynolds, T, Moran, ML, Moss, RB, Wine, JJ, Flotte, TR, Gardner, P (1998) Efficient and persistent gene transfer of AAV-CFTR in maxillary sinus. Lancet 351: pp. 1702-1703
  119. Wagner, JA, Messner, AH, Moran, ML, Daifuku, R, Kouyama, K, Desch, JK, Manley, S, Norbash, AM, Conrad, CK, Friborg, S, Reynolds, T, Guggino, WB, Moss, RB, Carter, BJ, Wine, JJ, Flotte, TR, Gardner, P (1999) Safety and biological efficacy of an adeno-associated virus vector-cystic fibrosis transmembrane regulator (AAV-CFTR) in the cystic fibrosis maxillary sinus. Laryngoscope 109: pp. 266-274
  120. Wagner, JA, Nepomuceno, IB, Messner, AH, Moran, ML, Batson, EP, Dimiceli, S, Brown, BW, Desch, JK, Norbash, AM, Conrad, CK, Guggino, WB, Flotte, TR, Wine, JJ, Carter, BJ, Reynolds, TC, Moss, RB, Gardner, P (2002) A phase II, double-blind, randomized, placebo-controlled clinical trial of tgAAVCF using maxillary sinus delivery in patients with cystic fibrosis with antrostomies. Hum Gene Ther 13: pp. 1349-1359
  121. Moss, RB, Rodman, D, Spencer, LT, Aitken, ML, Zeitlin, PL, Waltz, D, Milla, C, Brody, AS, Clancy, JP, Ramsey, B, Hamblett, N, Heald, AE (2004) Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis: a multicenter, double-blind, placebo-controlled trial. Chest 125: pp. 509-521
  122. Aitken, ML, Moss, RB, Waltz, DA, Dovey, ME, Tonelli, MR, McNamara, SC, Gibson, RL, Ramsey, BW, Carter, BJ, Reynolds, TC (2001) A phase I study of aerosolized administration of tgAAVCF to cystic fibrosis subjects with mild lung disease. Hum Gene Ther 12: pp. 1907-1916
  123. Manno, CS, Pierce, GF, Arruda, VR, Glader, B, Ragni, M, Rasko, JJ, Ozelo, MC, Hoots, K, Blatt, P, Konkle, B, Dake, M, Kaye, R, Razavi, M, Zajko, A, Zehnder, J, Rustagi, PK, Nakai, H, Chew, A, Leonard, D, Wright, JF, Lessard, RR, Sommer, JM, Tigges, M, Sabatino, D, Luk, A, Jiang, H, Mingozzi, F, Couto, L, Ertl, HC, High, KA, Kay, MA (2006) Successful transduction of liver in hemophilia by AAV-factor IX and limitations imposed by the host immune response. Nat Med 12: pp. 342-347
  124. Manno, CS, Chew, AJ, Hutchison, S, Larson, PJ, Herzog, RW, Arruda, VR, Tai, SJ, Ragni, MV, Thompson, A, Ozelo, M, Couto, LB, Leonard, DG, Johnson, FA, McClelland, A, Scallan, C, Skarsgard, E, Flake, AW, Kay, MA, High, KA, Glader, B (2003) AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. Blood 101: pp. 2963-2972
  125. Maguire, AM, Simonelli, F, Pierce, EA, Pugh, EN, Mingozzi, F, Bennicelli, J, Banfi, S, Marshall, KA, Testa, F, Surace, EM, Rossi, S, Lyubarsky, A, Arruda, VR, Konkle, B, Stone, E, Sun, J, Jacobs, J, Dell鈥橭sso, L, Hertle, R, Ma, JX, Redmond, TM, Zhu, X, Hauck, B, Zelenaia, O, Shindler, KS, Maguire, MG, Wright, JF, Volpe, NJ, McDonnell, JW, Auricchio, A, High, KA, Bennett, J (2008) Safety and efficacy of gene transfer for Leber鈥檚 congenital amaurosis. N Engl J Med 358: pp. 2240-2248
  126. Testa, F, Maguire, AM, Rossi, S, Pierce, EA, Melillo, P, Marshall, K, Banfi, S, Surace, EM, Sun, J, Acerra, C, Wright, JF, Wellman, J, High, KA, Auricchio, A, Bennett, J, Simonelli, F (2013) Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital amaurosis type 2. Ophthalmology 120: pp. 1283-1291
  127. Ashtari, M, Cyckowski, LL, Monroe, JF, Marshall, KA, Chung, DC, Auricchio, A, Simonelli, F, Leroy, BP, Maguire, AM, Shindler, KS, Bennett, J (2011) The human visual cortex responds to gene therapy-mediated recovery of retinal function. J Clin Invest 121: pp. 2160-2168
  128. Simonelli, F, Maguire, AM, Testa, F, Pierce, EA, Mingozzi, F, Bennicelli, JL, Rossi, S, Marshall, K, Banfi, S, Surace, EM, Sun, J, Redmond, TM, Zhu, X, Shindler, KS, Ying, GS, Ziviello, C, Acerra, C, Wright, JF, McDonnell, JW, High, KA, Bennett, J, Auricchio, A (2010) Gene therapy for Leber鈥檚 congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther 18: pp. 643-650
  129. Bainbridge, JW, Smith, AJ, Barker, SS, Robbie, S, Henderson, R, Balaggan, K, Viswanathan, A, Holder, GE, Stockman, A, Tyler, N, Petersen-Jones, S, Bhattacharya, SS, Thrasher, AJ, Fitzke, FW, Carter, BJ, Rubin, GS, Moore, AT, Ali, RR (2008) Effect of gene therapy on visual function in Leber鈥檚 congenital amaurosis. N Engl J Med 358: pp. 2231-2239
  130. Gaudet, D, Methot, J, Dery, S, Brisson, D, Essiembre, C, Tremblay, G, Tremblay, K, Wal, J, Twisk, J, Bulk, N, Sier-Ferreira, V, Deventer, S (2013) Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. Gene Ther 20: pp. 361-369
  131. Stroes, ES, Nierman, MC, Meulenberg, JJ, Franssen, R, Twisk, J, Henny, CP, Maas, MM, Zwinderman, AH, Ross, C, Aronica, E, High, KA, Levi, MM, Hayden, MR, Kastelein, JJ, Kuivenhoven, JA (2008) Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients. Arterioscler Thromb Vasc Biol 28: pp. 2303-2304
  132. Smith, BK, Collins, SW, Conlon, TJ, Mah, CS, Lawson, LA, Martin, AD, Fuller, DD, Cleaver, BD, Clement, N, Phillips, D, Islam, S, Dobjia, N, Byrne, BJ (2013) Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther 24: pp. 630-640
  133. Mendell, JR, Campbell, K, Rodino-Klapac, L, Sahenk, Z, Shilling, C, Lewis, S, Bowles, D, Gray, S, Li, C, Galloway, G, Malik, V, Coley, B, Clark, KR, Li, J, Xiao, X, Samulski, J, McPhee, SW, Samulski, RJ, Walker, CM (2010) Dystrophin immunity in Duchenne鈥檚 muscular dystrophy. N Engl J Med 363: pp. 1429-1437
  134. Bowles, DE, McPhee, SW, Li, C, Gray, SJ, Samulski, JJ, Camp, AS, Li, J, Wang, B, Monahan, PE, Rabinowitz, JE, Grieger, JC, Govindasamy, L, Agbandje-McKenna, M, Xiao, X, Samulski, RJ (2012) Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol Ther 20: pp. 443-455
  135. Mendell, JR, Rodino-Klapac, LR, Rosales, XQ, Coley, BD, Galloway, G, Lewis, S, Malik, V, Shilling, C, Byrne, BJ, Conlon, T, Campbell, KJ, Bremer, WG, Taylor, LE, Flanigan, KM, Gastier-Foster, JM, Astbury, C, Kota, J, Sahenk, Z, Walker, CM, Clark, KR (2010) Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 68: pp. 629-638
  136. Mendell, JR, Rodino-Klapac, LR, Rosales-Quintero, X, Kota, J, Coley, BD, Galloway, G, Craenen, JM, Lewis, S, Malik, V, Shilling, C, Byrne, BJ, Conlon, T, Campbell, KJ, Bremer, WG, Viollet, L, Walker, CM, Sahenk, Z, Clark, KR (2009) Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol 66: pp. 290-297
  137. Mendell, JR, Rodino-Klapac, L, Sahenk, Z, Malik, V, Kaspar, BK, Walker, CM, Clark, KR (2012) Gene therapy for muscular dystrophy: lessons learned and path forward. Neurosci Lett 527: pp. 90-99
  
• 刊物主题：Allergology; Immunology; Internal Medicine;
• 出版者：Springer US
• ISSN：1559-0267

文摘

Jaundice results from the systemic accumulation of bilirubin, the final product of the catabolism of haem. Inherited liver disorders of bilirubin metabolism and transport can result in reduced hepatic uptake, conjugation or biliary secretion of bilirubin. In patients with Rotor syndrome, bilirubin (re)uptake is impaired due to the deficiency of two basolateral/sinusoidal hepatocellular membrane proteins, organic anion-transporting polypeptide 1B1 (OATP1B1) and OATP1B3. Dubin-Johnson syndrome is caused by a defect in the ATP-dependent canalicular transporter, multidrug resistance-associated protein 2 (MRP2), which mediates the export of conjugated bilirubin into bile. Both disorders are benign and not progressive and are characterised by elevated serum levels of mainly conjugated bilirubin. Uridine diphospho-glucuronosyl transferase 1A1 (UGT1A1) is responsible for the glucuronidation of bilirubin; deficiency of this enzyme results in unconjugated hyperbilirubinaemia. Gilbert syndrome is the mild and benign form of inherited unconjugated hyperbilirubinaemia and is mostly caused by reduced promoter activity of the UGT1A1 gene. Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbilirubinaemia due to mutations in the UGT1A1 gene, which can cause kernicterus early in life and can be even lethal when left untreated. Due to major disadvantages of the current standard treatments for Crigler-Najjar syndrome, phototherapy and liver transplantation, new effective therapeutic strategies are under development. Here, we review the clinical features, pathophysiology and genetic background of these inherited disorders of bilirubin metabolism and transport. We also discuss the upcoming treatment option of viral gene therapy for genetic disorders such as Crigler-Najjar syndrome and the possible immunological consequences of this therapy.