Genomic medicine: New therapeutic approaches to mendelian disorders

New England Journal of Medicine

Volumn 363, Issue 9, 2010, Pages 852-863

  Dietz, Harry C ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; AMIGAL; ANGIOTENSIN II; AT 2220; BETA N ACETYLHEXOSAMINIDASE A; GALSULFASE; GLUCOSYLCERAMIDASE; IDURONATE 2 SULFATASE; IMATINIB; IMIGLUCERASE; ISOFAGOMINE TARTRATE; LAMIN A; LARONIDASE; LEVO IDURONIDASE; LOSARTAN; LYSOSOME ENZYME; MIGALASTAT HYDROCHLORIDE; MIGLUSTAT; N ACETYLGALACTOSAMINE 4 SULFATASE; PLICERA; PROTEIN FARNESYLTRANSFERASE INHIBITOR; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; SMALL MOLECULE TRANSPORT AGENT; SPHINGOMYELIN PHOSPHODIESTERASE; TALIGLUCERASE ALFA; TIPIFARNIB; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; UPLYSO; VELAGLUCERASE ALFA; PROTEIN; RNA PRECURSOR;

BLOOD BRAIN BARRIER; CELL NUCLEUS MEMBRANE; CHRONIC MYELOID LEUKEMIA; CLINICAL FEATURE; COCULTURE; DISEASE COURSE; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME MODIFICATION; ENZYME REPLACEMENT; ENZYME SUBSTRATE; FIBROBLAST; FOOD AND DRUG ADMINISTRATION; GENE CLUSTER; GENE DELIVERY SYSTEM; GENE DISRUPTION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENE REPLACEMENT THERAPY; GENE TARGETING; GENETIC DISORDER; GENETIC MANIPULATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LYSOSOME; LYSOSOME STORAGE DISEASE; MARFAN SYNDROME; MENDELIAN DISEASE; MUCOLIPIDOSIS TYPE 2; MUCOPOLYSACCHARIDOSIS; NONHUMAN; NONSENSE MUTATION; PHILADELPHIA 1 CHROMOSOME; PRIORITY JOURNAL; PROGERIA; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; REVIEW; SIGNAL TRANSDUCTION; VASCULAR DISEASE; ANIMAL; GENE THERAPY; GENETICS; METABOLISM; METHODOLOGY; MUTATION; RNA SPLICING;

ANIMALS; ENZYME REPLACEMENT THERAPY; GENE EXPRESSION; GENE THERAPY; GENETIC DISEASES, INBORN; HUMANS; MARFAN SYNDROME; MUTATION; PROGERIA; PROTEINS; RNA PRECURSORS; RNA SPLICING;

EID: 77956044839     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMra0907180     Document Type: Review

References (72)

1. Aiuti A, Brigida I, Ferrua F, et al. Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID. Immunol Res 2009;44:150-9.
2. Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 2009;360:447-58.
3. Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency: proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol 2007;123:139-47.
4. Cideciyan AV, Hauswirth WW, Aleman TS, et al. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther 2009;20:999-1004.
5. Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968;162:570-2.
6. Hickman S, Neufeld EF. A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun 1972;49:992-9.
7. Kornfeld S. Trafficking of lysosomal enzymes in normal and disease states. J Clin Invest 1986;77:1-6. (Pubitemid 16101192)
8. Ponder KP. Immune response hinders therapy for lysosomal storage diseases. J Clin Invest 2008;118:2686-9.
9. Kakkis E, Lester T, Yang R, et al. Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. Proc Natl Acad Sci U S A 2004;101:829-34.
10. Rapoport M, Lorberboum-Galski H. TAT-based drug delivery system - new directions in protein delivery for new hopes? Expert Opin Drug Deliv 2009;6:453-63.
11. Begley DJ, Pontikis CC, Scarpa M. Lysosomal storage diseases and the bloodbrain barrier. Curr Pharm Des 2008;14:1566-80. (Pubitemid 352002984)
12. Merideth MA, Gordon LB, Clauss S, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 2008;358:592-604.
13. Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423:293-8.
14. Toth JI, Yang SH, Qiao X, et al. Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. Proc Natl Acad Sci U S A 2005;102:12873-8.
15. Yang SH, Qiao X, Fong LG, Young SG. Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation. Biochim Biophys Acta 2008;1781:36-9.
16. Capell BC, Olive M, Erdos MR, et al. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. Proc Natl Acad Sci U S A 2008;105:15902-7.
17. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407-11.
18. Judge DP, Dietz HC. Therapy of Marfan syndrome. Annu Rev Med 2008;59:43-59.
19. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312:117-21.
20. Lacro RV, Dietz HC, Wruck LM, et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 2007;154:624-31.
21. Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC III. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med 2008;358:2787-95. (Pubitemid 351930853)
22. Matt P, Schoenhoff F, Habashi J, et al. Circulating transforming growth factor-beta in Marfan syndrome. Circulation 2009;120:526-32.
23. Chung AW, Yang HH, Radomski MW, van Breemen C. Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in Marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9. Circ Res 2008;102(8):e73-e85.
24. Xiong W, Knispel RA, Dietz HC, Ramirez F, Baxter BT. Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. J Vasc Surg 2008;47:166-72.
25. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med 2006;355:788-98.
26. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81.
27. Hanada K, Vermeij M, Garinis GA, et al. Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. Circ Res 2007;100:738-46.
28. Coucke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006;38:452-7.
29. Gomez D, Al Haj Zen A, Borges LF, et al. Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J Pathol 2009;218:131-42.
30. Druker BJ. Translation of the Philadelphia chromosome into therapy for CML. Blood 2008;112:4808-17.
31. Druker BJ, Lydon NB. Lessons learned from the development of an Abl tyrosine kinase inhibitor for chronic myelogenous leukemia. J Clin Invest 2000;105:3-7.
32. Conn PM, Janovick JA. Drug development and the cellular quality control system. Trends Pharmacol Sci 2009;30:228-33.
33. Radin NS. Treatment of Gaucher disease with an enzyme inhibitor. Glycoconj J 1996;13:153-7.
34. Pastores GM, Giraldo P, Chérin P, Mehta A. Goal-oriented therapy with miglustat in Gaucher disease. Curr Med Res Opin 2009;25:23-37.
35. Hollak CE, Hughes D, van Schaik IN, Schwierin B, Bembi B. Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. Pharmacoepidemiol Drug Saf 2009;18:770-7.
36. Ficicioglu C. Review of miglustat for clinical management in Gaucher disease type 1. Ther Clin Risk Manag 2008;4:425-31. (Pubitemid 351712001)
37. Giraldo P, Alfonso P, Atutxa K, et al. Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica 2009;94:1771-5.
38. Schiffmann R, Fitzgibbon EJ, Harris C, et al. Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol 2008;64:514-22.
39. Fan JQ. A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem 2008;389:1-11.
40. Rigat B, Mahuran D. Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. Mol Genet Metab 2009;96:225-32.
41. Mu TW, Fowler DM, Kelly JW. Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLoS Biol 2008;6(2):e26.
42. Mu TW, Ong DS, Wang YJ, et al. Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 2008;134:769-81.
43. Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 1999;8:1893-900.
44. Burke JK, Mogg AE. Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. Nucleic Acids Res 1985;13:6265-72.
45. Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 1996;2:467-9.
46. Bedwell DM, Kaenjak A, Benos DJ, et al. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 1997;3:1280-4.
47. Sleat DE, Sohar I, Gin RM, Lobel P. Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 2001;5:Suppl A:57-62.
48. Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM. Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum Mol Genet 2001;10:291-9.
49. Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999;104:375-81. (Pubitemid 29534321)
50. Dunant P, Walter MC, Karpati G, Lochmüller H. Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003;27:624-7.
51. Politano L, Nigro G, Nigro V, et al. Gentamicin administration in Duchenne patients with premature stop codon: preliminary results. Acta Myol 2003;22:15-21.
52. Wagner KR, Hamed S, Hadley DW, et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001;49:706-11.
53. Wilschanski M, Yahav Y, Yaacov Y, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003;349:1433-41.
54. Clancy JP, Rowe SM, Bebok Z, et al. No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. Am J Respir Cell Mol Biol 2007;37:57-66.
55. Hirawat S, Welch EM, Elfring GL, et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 2007;47:430-44.
56. Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447:87-91.
57. Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A 2008;105:2064-9. (Pubitemid 351439465)
58. Kerem E, Hirawat S, Armoni S, et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008;372:719-27.
59. Leeds P, Peltz SW, Jacobson A, Culbertson MR. The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon. Genes Dev 1991;5:2303-14.
60. Muhlrad D, Parker R. Recognition of yeast mRNAs as "nonsense containing" leads to both inhibition of mRNA translation and mRNA degradation: implications for the control of mRNA decapping. Mol Biol Cell 1999;10:3971-8.
61. Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 2002;295:2258-61.
62. Auld DS, Thorne N, Maguire WF, Inglese J. Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression. Proc Natl Acad Sci U S A 2009;106:3585-90.
63. Vitiello L, Bassi N, Campagnolo P, et al. In vivo delivery of naked antisense oligos in aged mdx mice: analysis of dystrophin restoration in skeletal and cardiac muscle. Neuromuscul Disord 2008;18:597-605.
64. Lu QL, Mann CJ, Lou F, et al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med 2003;9:1009-14.
65. Mann CJ, Honeyman K, Cheng AJ, et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci U S A 2001;98:42-7.
66. van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007;357:2677-86.
67. Wu B, Li Y, Morcos PA, Doran TJ, Lu P, Lu QL. Octa-guanidine Morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx mice. Mol Ther 2009;17:864-71.
68. Aartsma-Rus A, Janson AA, Kaman WE, et al. Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet 2004;74:83-92. (Pubitemid 38085240)
69. Aartsma-Rus A, Fokkema I, Verschuuren J, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 2009;30:293-9.
70. Montes T, Tortajada A, Morgan BP, Rodríguez de Córdoba S, Harris CL. Functional basis of protection against agerelated macular degeneration conferred by a common polymorphism in complement factor B. Proc Natl Acad Sci U S A 2009;106:4366-71.
71. Klionsky DJ. Crohn's disease, autophagy, and the Paneth cell. N Engl J Med 2009;360:1785-6.
72. Yano T, Kurata S. An unexpected twist for autophagy in Crohn's disease. Nat Immunol 2009;10:134-6.