Molecular biology of retinitis pigmentosa: Therapeutic implications

Current Pharmacogenomics

Volumn 2, Issue 4, 2004, Pages 339-349

  Ramon, E ^a   del Valle, L J ^a   Garriga, Pere ^a  

^a UNIVERSITAT POLITÈCNICA DE CATALUNYA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CARRIER PROTEIN; CELL NUCLEUS RECEPTOR; COMPLEMENTARY DNA; CYCLIC GMP PHOSPHODIESTERASE; FIBROBLAST GROWTH FACTOR; G PROTEIN COUPLED RECEPTOR; GROWTH FACTOR; INOSINATE DEHYDROGENASE; LECITHIN RETINOL ACYLTRANSFERASE; LEUCINE ZIPPER PROTEIN; MAGNESIUM; NEOXANTHIN; NEUROTROPHIC FACTOR; OLIGONUCLEOTIDE; PENICILLAMINE; PERIPHERIN; PROTEIN TYROSINE KINASE; RETINA S ANTIGEN; RETINAL; RETINOID BINDING PROTEIN; RETINOL; RHODOPSIN; RIBOFLAVIN; RIBOZYME; TRANSDUCIN; UNINDEXED DRUG; VISUAL PIGMENT; XANTHOPHYLL; ZINC;

APOPTOSIS; ARTICLE; BLINDNESS; CELL DIFFERENTIATION; CELL ENCAPSULATION; CONTROLLED RELEASE FORMULATION; DEGENERATIVE DISEASE; DISEASE COURSE; DRUG DESIGN; DRUG MECHANISM; DRUG SPECIFICITY; GENE DELETION; GENE MUTATION; GENE TARGETING; GENE THERAPY; HUMAN; NONHUMAN; PHOTORECEPTOR CELL; RETINA DEGENERATION; RETINA SURGERY; RETINITIS PIGMENTOSA; RNA DEGRADATION; STEM CELL TRANSPLANTATION; TREATMENT PLANNING;

EID: 9444283151     PISSN: 15701603     EISSN: None     Source Type: Journal    
DOI: 10.2174/1570160043377376     Document Type: Article

References (82)

1. Alama, A.; Barbieri, F.; Cagnoli, M. and Schettini, G. (1997) Antisense oligonucleotides as therapeutic agents. Pharm. Res. 36 171-178.
2. Aleman, T. S.; Duncan, J. L.; Bieber, M. L.; de Castro, E.; Marks, D. A.; Gardner, L. M.; Steinberg, J. D.; Cideciyan, A. V.; Maguire, M. G. and Jacobson, S. G. (2001) Macular pigment and lutein supplementation in retinitis pigmentosa and usher syndrome. Invest. Ophthalmol. Vis. Sci. 42, 1873-1881.
3. Ali, R. R.; Sarra, G. M.; Stephens, C.; Alwis, M. D.; Bainbridge, J. W.; Munro, P. M.; Fauser, S.; Reichel, M. B.; Kinnon, C.; Hunt, D. M.; Bhattacharya, S. S. and Thrasher, A. J. (2000) Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat. Genet. 25, 306-310.
4. Alteheld, N.; Roessler, G.; Vobig, M. and Walter, P. (2004) The retina implant - new approach to a visual prosthesis. Biomed. Tech. 49, 99-103.
5. Andres, A.; Garriga, P. and Manyosa, J. (2003) Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa. Biochem. Biophys. Res. Commun. 303, 294-301.
6. Armstrong, R. A. and Smith, S. A. (1999) Retinitis Pigmentosa and the new genetics. Optometry Today 39, 29-32.
7. Bennett, J.; Zeng, Y.; Bajwa, R.; Klatt, L.; Li, Y. and Maguire, A. M. (1998) Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse. Gene Ther. 5, 1156-1164.
8. Berson, E. L. (1993) Retinitis Pigmentosa: The Friedenwald lecture. Invest. Ophthalmol. Vis. Sci. 34, 1659-1676.
9. Berson, E. L. (2000) Nutrition and retinal degenerations. Int. Ophthalmol. Clin. 40, 93-111.
10. Bosch, L.; Ramon, E; del Valle, L. J. and Garriga, P. (2003) Structural and functional role of helices I and II in rhodopsin. A novel interplay evidenced by mutations at Gly-51 and Gly-89 in the transmembrane domain. J. Biol. Chem. 278, 20203-20209.
11. Caddell, J. L.; Graziani, L. J.; Wiswell, T. E.; Hsieh, H. C. and Mansmann, H. C. Jr. (1999) The possible role of magnesium in protection of premature infants from neurological syndromes and visual impairments and a review of survival of magnesium-exposed premature infants. Magnes. Res. 12, 201-216.
12. Chader, G. J. (2002) Animal models in research on retinal degenerations: past progress and future hope. Vis. Res. 42, 393-399.
13. Czubayko, F.; Riegel, A. N. and Wellstein, A. (1994) Ribozyme-targeting alucidates a direct role for pleiotrophin in tumor growth. J. Biol. Chem. 269, 21358-21363.
14. Dejneka, N. S.; Rex, T. S. and Bennet, J. (2003) Gene therapy and animal models for retinal disease. Dev. Ophthalmol. 37, 188-198.
15. Delyfer, M. N.; Leveillard, T.; Mohand-Said, S.; Hicks, D.; Picaud, S. and Sahel, J. A. (2004) Inherited retinal degenerations: therapeutic prospects. Biol. Cell 96, 261-269.
16. Doi, T.; Molday, R. S. and Khorana, G. H. (1990) Role of the intradiscal domain in rhodopsin assembly and function. Proc. Natl. Acad. Sci. USA 87, 4991-4995.
17. Fan, J.; Rohrer, B.; Moiseyev, G.; Ma, J. X. and Crouch, R. K. (2003) Isorhodopsin rather than rhodopsin mediates rod function in RPE65 knock-out mice. Proc. Natl. Acad. Sci. USA 100, 13662-13667.
18. Farrar, G. J.; Kenna, P. F. and Humphries, P. (2002) On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention. The EMBO J. 21, 857-864.
19. Farrar, G. J.; Kenna, P.; Redmond, R.; McWilliam, P.; Bradley, D. G.; Humphries, M. M.; Sharp, E. M.; Inglebearn, C. F.; Bashir, R.; Jay, M.; Watty, A.; Ludwig, M.; Schinzel, A.; Samanns, C.; Gal, A.; Battacharya, S. and Humphries, P. (1990) Autosomal dominant Retinitis Pigmentosa: Absence of the rhodopsin Proline → Histidinre substitution (codon 23) in pedigrees from europe. Am. J. Hum. Genet. 47, 941-945.
20. Fritz, J. J.; Gorbatyuk, M.; Lewin, A. S. and Hauswirth, W. W. (2004) Design and validation of therapeutic hammerhead ribozymes for autosomal dominant diseases. Methods Mol. Biol. 252, 221-236.
21. Gahlot, D. K. (1981) Penicillamine- a new therapy of retinitis pigmentosa. Indian J. Ophthalmol. 43, 55-58.
22. Garcia-Sandoval, B. (2001) Diagnostico oftalmológico de Retinosis Pigmentaria. In La retinosis Pigmentaria en España: Estudio clínico y genético. Valverde, D.; Coord.; ONCE, Madrid, Spain, pp. 39-68.
23. Garriga, P.; Liu, X. and Khorana, H. G. (1996). Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125→ Arg in the transmembrane helix C. Proc. Natl. Acad. Sci. USA 93, 4560-4564.
24. Grahn, B. H.; Paterson, P. G.; Gottschall-Pass, K. T. and Zhang, Z. (2001) Zinc in the eye. J. Am. Coll. Nutr. 20, 106-118
25. Hampel, A. and Tritz, R. (1989) RNA catalytic properties of the minimum (-) sTRSV sequence. Biochemistry 28, 4929-4933.
26. Haruta, M.; Sasai, Y.; Kawasaki, H.; Amemiya, K.; Ooto, S.; Kitada, M.; Suemori, H.; Nakatsuji, N.; Ide, C.; Honda, Y. and Takahashi, M. (2004) In vitro and in vivo characterization of pigment epithelial cells differentiated from primate embryonic stem cells. Invest. Ophthalmol. Vis. Sci. 45, 1020-1025.
27. Haseloff, J. and Gerlach, W. (1988) Simple RNA enzymes with new and highly specific endoribonuclease activities. Nature 334 585-591.
28. Hauswirth, W. W.; Li, Q.; Raisler, B.; Timmers, A. M.; Berns, K. I.; Flannery, J. G.; LaVail, M. M. and Lewin, A. S. (2004) Range of retinal diseases potentially treatable by AAV-vectored gene therapy. Novartis Found. Symp. 255, 179-188; discussion 188-194.
29. Heckenlively, J. R.; Boughman, J. A. and Friedman, L. H. (1988) Pedigree analisis. In Heckenlively JR. Retinitis Pigmentosa. Philadelphia PA, Lippincott, pp. 06-24.
30. Hicks, D. and Molday, R. S. (1986) Differential immunogold-dextran labeling of bovine and frog rod and cone cells using monoclonal antibodies against bovine rhodopsin. Exp. Eye Res. 42 55-71.
31. Holopigian, K.; Greenstein, V. C. and Seiple, W. (2004) Rod and cone photoreceptor function in patients with cone dystrophy. Invest. Ophthalmol. Vis. Sci. 45, 275-281.
32. Hwa, J.; Reeves, P. J.; Klein-Seetharaman, J.; Davidson, F. and Khorana, H. G. (1999) Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function. Proc. Natl. Acad. Sci. USA 96, 1932-1935.
33. Inglehearn, C. F.; Bashir, R.; Lester, D. H.; Jay, M.; Bird, A. C. and Bhattacharya, S. S. (1991) A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am. J. Hum. Genet. 48, 26-30.
34. Intody, Z.; Perkins, B. D. and Wilson, J. H. (2003) Triple helix: a new promise for gene therapy. Orv. Hetil. 144, 757-763.
35. Jhon, S. K.; Smith, J. E.; Aguirre, G. D. and Milam, A. H. (2000) Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa. Mol. Vis. 3, 204-215.
36. Kalloniatis, M. and Fletcher, E. L. (2004) Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options. Clin. Exp. Optom. 87, 65-80.
37. Kaplan, H. J.; Tezel, T. H.; Berger, A. S.; Wolf, M. L. and Del Priore, L. V. (1997) Human photoreceptor transplantation in retinitis pigmentosa. A safety study. Arch. Ophthalmol. 115, 1168-1172.
38. Kaushal, S. and Khorana, H. G. (1994) Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry 33, 6121-6128.
39. Lai, C. M.; Yu, M. J.; Brankov, M.; Barnett, N. L.; Zhou, X.; Redmond, M. T.; Narfstrom, K. and Rakoczy, E. P. (2004) Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/-knockout mouse eye results in limited rescue. Genet. Vaccines Ther. 2, 3.
40. Lau, D.; McGee, L. H.; Zhou, S.; Rendahl, K. G.; Manning, W. C.; Escobedo, J. A. and Flannery, J. G. (2000) Retinal degeneration is slowed in transgenic rats by AAV-mediated delivery of FGF-2. Invest. Ophthalmol. Vis. Sci. 41, 3622-3633.
41. Lau, D. and Flannery, J. (2003) Viral-mediated FGF-2 treatment of the constant light damage model of photoreceptor degeneration. Doc. Ophthalmol. 106, 89-98.
42. LaVail, M. M.; Yasumura, D.; Matthes, M. T.; Drenser, K. A.; Flannery, J. G.; Lewin, A. S. and Hauswirth, W. W. (2000) Rybozime rescue of photoreceptor cells in P23H transgenic rats: long-term survival and site-stage therapy. Proc. Natl. Acad. Sci. USA 97, 11488-11493.
43. Lem, J. and Fain, G. L. (2004) Constitutive opsin signalling: night blindness or retinal degeneration. Trends Mol. Med. 10, 150-157.
44. Lewis, J. G.; Lin, K. Y.; Kothvale, A.; Flanagan, W. M.; Mateucci, M. D.; Deprince, R. B.; Mook, R. A. Jr.; Hendren, R. W. and Wagner, R. W. (1996) A serum-resistant cytofectin for cellular delivery of antisense oligonucleotides and plasmid DNA. Proc. Nat. Acad. Sci. USA 93, 3176-3181.
45. Li, T.; Snyder, W. K.; Olsson, J. E. and Dryja, T. P. (1996) Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc. Natl. Acad. Sci. USA 93, 14176-14181.
46. Lu, B.; Kwan, T.; Kurimoto, Y.; Shatos, M.; Lund, R. D. and Young, M. J. (2002) Transplantation of EGF-responsive neurospheres from GFP transgenic mice into the eyes of rd mice. Brain Res. 943, 292-300.
47. Lund, R. D.; Ono, S. J.; Keegan, D. J. and Lawrence, J. M. (2003) Retinal transplantation: progress and problems in clinical application. J. Leukoc. Biol. 74, 151-160.
48. Macke, J. P.; Davenport, C. M.; Jacobson, S. G.; Hennessey, J. C.; Gonzalez-Fernandez, F.; Conway, B. P.; Heckenlively, J.; Palmer, R.; Maumenee, I. H.; Sieving, P.; Gouras, P.; Good, W. and Nathans, J. (1993) Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am. J. Hum. Genet. 53, 80-89.
49. Margalit, E.; Maia, M.; Weiland, J. D.; Greenberg, R. J.; Fujii, G. J.; Torres, G.; Yathaisere, D. V.; O'hearn, T. M.; Liu, W.; Lazzi, G.; Dagnelie, G.; Scribner, D. A.; de Juan, E. and Humayun, M. S. (2002) Retinal prosthesis for the blind. Surv. Ophthalm. 47, 335-356.
50. McGee Sanftner, L. H.; Abel, H.; Hauswirth, W. W. and Flannery, J. G. (2001) Glial cell line derived neurotrophic factor delays photoreceptordegeneration in a transgenic rat model of retinitis pigmentosa. Mol. Ther. 4, 622-629.
51. Molday, R. S. and McKenzie, D. (1986) Monoclonal antibodies to rhodopsin: characterization, cross-reactivity, and application as structural probes. Biochemistry 22, 653-770.
52. Niu, S. L.; Mitchell, D. C.; Lim, S. Y.; Wen, Z. M.; Kim, H. Y.; Salem, N. Jr. and Litman, B. J. (2004) Reduced G protein-coupled signaling efficiency in retinal rod outer segments in response to N-3 fatty acid deficiency. J. Biol. Chem. In press.
53. Noorwez, S. M.; Kuksa, V.; Imanishi, Y.; Zhu, L.; Filipek, S.; Palczewsky, K. and Kaushal, S. (2003) Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H opsin mutant associated with autosomal dominant retinitis pigmentosa (ADRP). J. Biol. Chem. 278, 14442-14450.
54. Noorwez, S. M.; Malhotra, R.; McDowell, J. H.; Smith, K. A.; Krebs, M. P. and Kaushal, S. (2004) Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. J. Biol. Chem. 279, 16278-16284.
55. Oprian, D. D.; Molday, R. S.; Kaufman, R. J. and Khorana, H. G. (1987) Expression of a synthetic bovine rhodopsin gene in monkey kidney cells. Proc. Natl. Acad. Sci. USA 84, 8874-8878.
56. Palczewski, K.; Kumasaka, T.; Hori, T.; Behnke, C. A.; Motoshima, H.; Fox, B. A.; Le Trong, I.; Teller, D. C.; Okada, T.; Stenkamp, R. E.; Yamamoto, M. and Miyano, M. (2000) Crystal structure of rhodopsin: A G protein-coupled receptor. Science 289, 739-745.
57. Perrinan, R.; Delves, A. and Gerlach, W. L. (1992) Extended target-site specificity for a hammerhead ribozyme. Gene 113, 157-163.
58. Peterman, M. C.; Mehenti, N. Z.; Bilbao, K. V.; Lee, C. J.; Leng, T.; Noolandi, J.; Bent, S. F.; Blumenkranz, M. S. and Fishman, H. A. (2003) The Artificial Synapse Chip: a flexible retinal interface based on directed retinal cell growth and neurotransmitter stimulation. Artif. Organs. 27, 975-985.
59. Petters, R. M.; Alexander, C. A.; Wells, K. D.; Collins, E. B.; Sommer, J. R.; Blanton, M. R.; Rojas, G.; Hao, Y.; Flowers, W. L.; Banin, E.; Cideciyan, A. V.; Jacobson, S. G. and Wong, F. (1997) Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nat. Biotechnol. 15, 965-970.
60. Ramon, E; del Valle; L. J. and Garriga P. (2003) Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94→Ile. J. Biol. Chem. 278, 6427-6432.
61. Ripps, H. (2002) Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect. Exp. Eye Res. 74, 327-336.
62. Rivolta, C.; Sharon, D.; DeAngelis, M. M. and Dryja, T. P. (2002) Retinitis Pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum. Mol. Genet. 11, 1219-1227.
63. Rossi, C.; Strettoi, E. and Galli-Resta, L. (2003) The spatial order of horizontal cells is not affected by massive alterations in the organization of other retinal cells. J. Neurosci. 23, 9924-9928.
64. Sagdullaev, B. T.; Aramant, R. B.; Seiler, M. J.; Woch, G. and McCall, M. A. (2003) Retinal transplantion- induced recovery of retintectal visual funstion in a rodent model of retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 44, 1686-1695.
65. Sauve, Y.; Girman, S. V.; Wang, S.; Keegan, D. J. and Lund, R. D. (2002) Preservation of visual responsiveness in the superior colliculus of RCS rats after retinal pigment epithelium cell transplantation. Neuroscience 114, 389-401.
66. Shaw, L. C.; Skold, A.; Wong, F.; Petters, R.; Hauswirth, W. W. and Lewin, A. S. (2001) An allele-specific hammerhead ribozyme gene therapy for a porcine model of autosomal dominant retinitis pigmentosa. Mol. Vis. 7, 6-13.
67. Singh, V. K. and Tripathi, P. (2002) Gene therapy in ocular diseases. Indian J. Ophthalmol. 50, 173-181.
68. Simunovic, M. P. and Moore, T. A. (1998) The cone dystrophies. Eye 12, 553-565.
69. Stojanovic, A. and Hwa, J. (2002) Rhodopsin and retinitis pigmentosa: shedding light on structure and function. Receptors Channels 8, 33-50.
70. Sullivan, J. M.; Pietras, K. M.; Shin, B. J. and Misasi, J. N. (2002) Hammerhead ribozymes designed to cleave all human rod opsin mRNAs which cause autosomal dominant retinitis pigmentosa. Mol. Vis. 8, 102-113.
71. Sung, C. H.; Schneider, G.; Agarwal, N. and Papermaster, D. S. (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88, 8840-8844.
72. Takahashi, M. (2004) Delivery of genes to the eye using lentiviral vectors. Methods Mol. Biol. 246, 439-449.
73. Tam, B. M.; Moritz, O. L. and Papermaster, D. S. (2004) The C terminus of peripherin/rds participates in rod outer segment targeting and alignment of disk incisures. Mol. Biol. Cell. 15, 2027-2037.
74. To, K.; Adamian, M.; Dryja, T. P. and Berson, E. L. (2002) Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am. J. Ophthalmol. 134, 290-293.
75. Van Hooser, J. P.; Aleman, T. S.; He, Y. G.; Cideciyan, A. V.; Kuksa, V.; Pittler, S. J.; Stone, E. M.; Jacobson, S. G. and Palczewski, K. (2000) Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc. Natl. Acad. Sci. USA 97, 8623-8628.
76. Van Hooser, J. P.; Liang, Y.; Maeda, T.; Kuksa, V.; Jang, G. F.; He, Y. G.; Rieke, F.; Fong, H. K.; Detwiler, P. B. and Palczewski, K. (2002) Recovery of visual functions in a mouse model of Leber congenital amaurosis. J. Biol. Chem. 277, 19173-19182.
77. Vollrath, D.; Feng, W.; Duncan, J. L.; Yasumura, D.; D'Cruz, P. M.; Chappelow, A.; Matthes, M. T.; Kay, M. A. and LaVail, M. M. (2001) Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc. Natl. Acad. Sci. USA 98, 12584-12589.
78. Walker, I.; Irwin, W. J. and Akhtar, S. (1995) Improved cellular delivery of antisense oligonucleotides using transferrin receptor antibody-oligonucleotide conjugates. Pharm. Res. 12, 1548-1553.
79. Wang, S.; Lee, R. J.; Cauchon, G.; Gorenstein, D. G. and Low, P. S. (1995) Delivery antisense oligonucleotides against the human epidermal growth factor receptor into cultured KB cells with liposomes conjugated to folate polyethyleneglicol. Proc. Natl. Acad. Sci. USA 92, 3318-3322.
80. Weleber, R. G.; Butter, N. S.; Murphey, W. H., Sheffield, V. C. and Stone, E. M. (1997) X-linked retinitis pigmentosa associated with a two base pair insertion in codon 99 of the RP3 gene RPGR. Arch. Ophthalmol. 115, 1429-1435.
81. Weleber, R. G.; Kurz, D. E. and Trzupek, K. M. (2003) Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy. Ophthalmol. Clin. North Am. 16, 583-593.
82. Wolf, G. (2002) Three vitamins are involved in regulation of the circadian rhythm. Nutr. Rev. 60, 257-260.