Achromatopsia as a potential candidate for gene therapy

Advances in Experimental Medicine and Biology

Volumn 664, Issue , 2010, Pages 639-646

  Pang, Ji Jing ^a   Alexander, John ^b   Lei, Bo ^b   Deng, Wentao ^b   Zhang, Keqing ^b   Li, Qiuhong ^b   Chang, Bo ^b   Hauswirth, William W ^b  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CONE CYCLIC NUCLEOTIDE GATED CATION CHANNEL BETA 3 SUBUNIT; CYCLIC NUCLEOTIDE GATED CHANNEL; GNAT2 PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARVOVIRUS VECTOR; UNCLASSIFIED DRUG;

ADENO ASSOCIATED VIRUS; AUTOSOMAL RECESSIVE DISORDER; CNGB3 GENE; COLOR BLINDNESS; COLOR VISION; CONFERENCE PAPER; CONTACT LENS; DARK ADAPTATION; DRUG ADMINISTRATION ROUTE; DRUG EFFICACY; EXPERIMENTAL DOG; GENE; GENE TARGETING; GNAT2 GENE; HUMAN; LIGHT EXPOSURE; LOSS OF FUNCTION MUTATION; MOUSE MUTANT; NONHUMAN; NYSTAGMUS; PATHOGENESIS; PHOTOPHOBIA; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; SUBRETINA DRUG ADMINISTRATION; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; VISUAL ACUITY; VISUAL IMPAIRMENT;

ANIMALS; COLOR VISION DEFECTS; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DOGS; GENE THERAPY; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; MICE; MUTATION;

ADENO-ASSOCIATED VIRUS; ANIMALIA; MUS;

EID: 79955059185     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-1399-9_73     Document Type: Conference Paper

References (27)

1. Alexander JJ, Yumiko Umino Y, Everhart D et al (2007) Restoration of cone vision in a mouse model of achromatopsia. Nat Med 13:685-687 (Pubitemid 46889758)
2. Aligianis IA, Forshew T, Johnson S et al (2002) Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet 39:656-660 (Pubitemid 35001718)
3. Bradley J, Frings S, Yau KWet al (2001) Nomenclature for ion channel subunits. Science 294:209-2096
4. Bradley J, Reisert J, Frings S (2005) Regulation of cyclic nucleotide gated channels. Curr Opin Neurobiol 15:343-349 (Pubitemid 40806447)
5. Cai K, Itoh Y, Khorana HG (2001) Mapping of contact sites in complex formation between transducin and light-activated rhodopsin by covalent crosslinking: Use of a photoactivatable reagent. PNAS 98:4877-4882 (Pubitemid 32397050)
6. Carroll J, Choi SS, Williams DR (2008) In vivo imaging of the photoreceptor mosaic of a rod monochromat. Vis Res 48(26):2564-2568
7. Chang B, Dacey MS, Hawes NL et al (2006) Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci 47:5017-5021 (Pubitemid 46586408)
8. Fonda G, Thomas H (1974) Correction of low visual acuity in achromatopsia. Use of corrective lenses as an aid to educational and vocational placement. Arch Ophthalmol 91:20-23
9. Goto-Omoto S, Hayashi T, Gekka T et al (2006) Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. Vis Neurosci 23:395-402 (Pubitemid 46024718)
10. Hawes NL, Wang X, Hurd RE et al (2006) A point mutation in the Cnga3 gene causes cone photoreceptor function loss (cpfl5) in mice. Paper presented at ARVO, E Abstract-4579, Fort Lauderdale, April 30 to May 4, 2006
11. Kaupp UB, Seifert R (2002) Cyclic nucleotide gated ion channels. Physiol Rev 82:769-824 (Pubitemid 34743338)
12. Khan NW, Wissinger B, Kohl S et al (2007) CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci 48:3864-3871 (Pubitemid 351261128)
13. Kohl S, Baumann B, Broghammer M et al (2000) Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 9:2107-2116
14. Kohl S, Baumann B, Rosenberg T et al (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 71:422-425 (Pubitemid 34800258)
15. Kohl S, Marx T, Giddings I et al (1998) Total color blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 19:257-259 (Pubitemid 28309337)
16. Kohl S, Varsanyi B, Antunes GA et al (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 13:302-308 (Pubitemid 40360784)
17. Komaromy AM, Alexander JJ, Chiodo AV et al (2008) Long-term rescue of cone function in a canine model of achromatopsia by rAAV-mediated gene therapy. Paper presented at ARVO, E Abstract-1131, Fort Lauderdale, April 27 to May 1, 2008
18. Park WL, Sunness JS (2004) Red contact lenses for alleviation of photophobia in patients with cone disorders. Am J Ophthalmol 137:774-775 (Pubitemid 38446706)
19. Peng C, Rich ED, Varnum MD (2004) Subunit configuration of heteromeric cone cyclic nucleotide gated channels. Neuron 42:401-410 (Pubitemid 38610139)
20. Pina AL, Baumert U, Loyer M et al (2004) A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. Mol Vis 10:265-271 (Pubitemid 38628952)
21. Schiefer U, Kurtenbach A, Braun E et al (1995) Centrally tinted contact lenses. A useful visual aid for patients with achromatopsia. Ger J Ophthalmol 4:52-56
22. Schornack MM, Brown WL, Siemsen DW (2007) The use of tinted contact lenses in the management of achromatopsia. Optometry 78:17-22
23. Sidjanin DJ, Lowe JK, McElwee JL et al (2002) Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 11:1823-1833
24. Sundin OH, Yang JM, Li Y et al (2000) Genetic basis of total colorblindness among the Pingelapese islanders. Nat Genet 25:289-293 (Pubitemid 30437314)
25. Wissinger B, Gamer D, Jagle H et al (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 69:722-737 (Pubitemid 32868518)
26. Young RS, Krefman RA, Anderson RJ et al (1983) Two additional benefits of dark glasses on rod vision in patients with congenital achromatopsia. Am J Optom Physiol Opt 60:56-60 (Pubitemid 13154602)
27. Young RS, Krefmanm RA, Fishman GA (1982) Visual improvements with red-tinted glasses in a patient with cone dystrophy. Arch Ophthalmol 100:268-271 (Pubitemid 12162234)