Gene therapy strategies for usher syndrome type 1B

Advances in Experimental Medicine and Biology

Volumn 723, Issue , 2012, Pages 235-242

  Williams, David S ^a   Lopes, Vanda S ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Adeno Associated Virus; Gene Therapy; Lentivirus; Melanosome; MYO7A; Opsin; Photoreceptor; Retinal Pigment Epithelium; Usher Syndrome

Indexed keywords

LENTIVIRUS VECTOR; MYOSIN VIIA; PARVOVIRUS VECTOR;

BLINDNESS; CONFERENCE PAPER; DRUG EFFICACY; EXON; GENE; GENE MUTATION; HUMAN; MOUSE MUTANT; MYO7A GENE; NONHUMAN; PHENOTYPE; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN LOCALIZATION; USHER SYNDROME; USHER SYNDROME TYPE 1B; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

ANIMALS; DEPENDOVIRUS; GENE THERAPY; HUMANS; LENTIVIRUS; MICE; MYOSINS; OPSINS; USHER SYNDROMES;

ADENO-ASSOCIATED VIRUS; LENTIVIRUS; MUS;

EID: 84862962387     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0631-0_31     Document Type: Conference Paper

References (45)

1. Allocca M, Doria M, Petrillo M et al (2008) Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest 118: 1955-64 (Pubitemid 351632397)
2. Astuto LM, Weston MD, Carney CA et al (2000) Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet 67: 1569-74
3. Bainbridge JW, Smith AJ, Barker SS et al (2008) Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358: 2231-9 (Pubitemid 351724452)
4. Bharadwaj AK, Kasztejna JP, Huq S et al (2000) Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res 71: 173-81
5. Blanchet C, Roux AF, Hamel C et al (2007) [Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefi ts]. Rev Laryngol Otol Rhinol (Bord) 128: 137-43
6. Bushman F D (2003) Targeting survival: integration site selection by retroviruses and LTRretrotransposons. Cell 115: 135-8 (Pubitemid 37329577)
7. Chen ZY, Hasson T, Kelley PM et al (1996) Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Genomics 36: 440-448 (Pubitemid 26321966)
8. Cideciyan AV, Aleman TS, Boye SL et al (2008) Human gene therapy for RPE65 isomerase defi ciency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A 105: 15112-7
9. Cuevas JM, Espin SC, Millan JM et al (1999) Identifi cation of three novel mutations in the MYO7A gene. Hum Mutat 14: 181
10. Dong B, Nakai H, Xiao W (2010) Characterization of genome integrity for oversized recombinant AAV vector. Mol Ther 18: 87-92
11. El-Amraoui A, Sahly I, Picaud S et al (1996) Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the hotoreceptor cells. Hum Mol Genet 5: 1171-8 (Pubitemid 26318557)
12. Gibbs D, Azarian SM, Lillo C et al (2004) Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. J Cell Sci 117: 6473-83 (Pubitemid 40214571)
13. Gibbs D, Kitamoto J, Williams DS (2003) Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein. Proc Natl Acad Sci U S A 100: 6481-86 (Pubitemid 36666607)
14. Gibson F, Walsh J, Mburu P et al (1995) A type VII myosin encoded by mouse deafness gene shaker-1. Nature 374: 62-64
15. Grieger JC, Samulski RJ (2005) Packaging capacity of adeno-associated virus serotypes: impact of larger genomes on infectivity and postentry steps. J Virol 79: 9933-44 (Pubitemid 41022335)
16. Gruter O, Kostic C, Crippa SV et al (2005) Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier. Gene Ther 12: 942-7 (Pubitemid 40852213)
17. Hashimoto T, Gibbs D, Lillo C et al (2007) Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. Gene Ther 14: 584-94 (Pubitemid 46444532)
18. Hasson T, Heintzelman MB, Santos-Sacchi J et al (1995) Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc. Natl. Acad. Sci. USA 92: 9815-19
19. Hasson T, Walsh J, Cable J et al (1997) Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression. Cell Motility and the Cytoskeleton 37: 127-38 (Pubitemid 27250657)
20. Hauswirth WW, Aleman TS, Kaushal S et al (2008) Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: shortterm results of a phase I trial. Hum Gene Ther 19: 979-90
21. Holme RH and Steel KP (2002) Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res 169: 13-23 (Pubitemid 34733015)
22. Jacobson SG, Aleman TS, Sumaroka A et al (2009) Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Ophthalmol Vis Sci 50: 1886-94
23. Jacobson SG, Cideciyan AV, Aleman TS et al (2008) Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet 17: 2405-15
24. Janecke AR, Meins M, Sadeghi M et al (1999) Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confi rmation of genetic heterogeneity. Hum Mutat 13: 133-40 (Pubitemid 29059152)
25. Jones, BW and Marc RE (2005) Retinal remodeling during retinal degeneration. Exp Eye Res 81: 123-37 (Pubitemid 41080094)
26. Kelley PM, Weston MD, Chen ZY et al (1997) The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). Genomics 40: 73-9 (Pubitemid 27108249)
27. Kostic C, Chiodini F, Salmon P et al (2003) Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina. Gene Ther 10: 818-21 (Pubitemid 36621827)
28. Lai Y, Yue Y, Duan D (2010) Evidence for the failure of adeno-associated virus serotype 5 to package a viral genome 3 8.2 kb. Mol Ther 18: 75-9
29. Levy G, Levi-Acobas F, Blanchard S et al (1997) Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 6: 111-6 (Pubitemid 27033973)
30. Lillo C, Kitamoto J, Liu X et al (2003) Mouse models for Usher syndrome 1B. Adv Exp Med Biol 533: 143-150 (Pubitemid 38005273)
31. Liu X, Ondek B, Williams DS (1998) Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. Nat. Genet. 19: 117-118
32. Liu X, Udovichenko IP, Brown SDM et al (1999) Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci. 19: 6267-6274 (Pubitemid 29347427)
33. Liu X, Vansant G, Udovichenko IP et al (1997) Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil. Cytoskel. 37: 240-252 (Pubitemid 27287684)
34. Liu XZ, Angeli SI, Rajput K et al (2008) Cochlear implantation in individuals with Usher type 1 syndrome. Int J Pediatr Otorhinolaryngol 72: 841-7
35. Lopes VS, Ramalho JS, Owen DM et al (2007) The ternary Rab27a-Myrip-Myosin VIIa complex regulates melanosome motility in the retinal pigment epithelium. Traffi c 8: 486-99 (Pubitemid 46638561)
36. Maguire AM, Simonelli F, Pierce EA et al (2008) Safety and effi cacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 358: 2240-8 (Pubitemid 351724453)
37. Mitchell RS, Beitzel BF, Schroder AR et al (2004) Retroviral DNA integration: ASLV, HIV, and MLV show distinct target site preferences. PLoS Biol 2: E234
38. Ouyang XM, Yan D, Du LL et al (2005) Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet 116: 292-9 (Pubitemid 40277241)
39. Udovichenko IP, Gibbs D, Williams DS (2002) Actin-based motor properties of native myosin VIIa. J Cell Sci 115: 445-450 (Pubitemid 34145191)
40. Weil D, Blanchard S, Kaplan J et al (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374: 60-61
41. Weil D, Levy G, Sahly I et al (1996) Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci U S A 93: 3232-3237. (Pubitemid 26125600)
42. Weston MD, Kelley PM, Overbeck LD et al (1996) Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 59: 1074-83 (Pubitemid 26346348)
43. Williams DS (2008) Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res 48: 433-41 (Pubitemid 351179522)
44. Wu Z, Yang H, Colosi P (2010) Effect of genome size on AAV vector packaging. Mol Ther 18: 80-6
45. Yanez-Munoz RJ, Balaggan KS, MacNeil A et al (2006) Effective gene therapy with nonintegrating lentiviral vectors. Nat Med 12: 348-53 (Pubitemid 43355085)