Retinal dysfunction, photoreceptor protein dysregulation and neuronal remodelling in the R6/1 mouse model of Huntington's disease

Neurobiology of Disease

Volumn 45, Issue 3, 2012, Pages 887-896

  Batcha, Abrez Hussain ^a   Greferath, Una ^a   Jobling, Andrew I ^a   Vessey, Kirstan A ^a   Ward, Michelle M ^a   Nithianantharajah, Jess ^a   Hannan, Anthony J ^a   Kalloniatis, Michael ^a,b   Fletcher, Erica L ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

Cone opsin; Huntington's disease; Photoreceptor; Remodelling; Retina

Indexed keywords

OPSIN; TRANSDUCIN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL DEATH; CONTROLLED STUDY; ELECTRORETINOGRAPHY; GLIOSIS; HUNTINGTON CHOREA; IMMUNOCYTOCHEMISTRY; MALE; MOLECULAR DYNAMICS; MOUSE; MUELLER CELL; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA CONE; RETINA DISEASE; RETINA ROD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION;

AGE FACTORS; ANALYSIS OF VARIANCE; ANIMALS; CELL DEATH; CONE OPSINS; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; ELECTRORETINOGRAPHY; GENE EXPRESSION REGULATION; GLIOSIS; HUMANS; HUNTINGTON DISEASE; IN SITU NICK-END LABELING; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MOTOR ACTIVITY; NERVE TISSUE PROTEINS; NEURONS; NUCLEAR PROTEINS; PHENOTYPE; RETINAL DISEASES; TRANSDUCIN; TRINUCLEOTIDE REPEATS;

EID: 84856560422     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.12.004     Document Type: Article

References (44)

1. Abou-Sleymane G., et al. Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Hum. Mol. Genet. 2006, 15:691-703.
2. Avasthi P., et al. Trafficking of membrane proteins to cone but not rod outer segments is dependent on heterotrimeric kinesin-II. J. Neurosci. 2009, 29:14287-14298.
3. Blanks J.C., Johnson L.V. Selective lectin binding of the developing mouse retina. J. Comp. Neurol. 1983, 221:31-41.
4. Caramins M., et al. Genetically confirmed clinical Huntington's disease with no observable cell loss. J. Neurol. Neurosurg. Psychiatry 2003, 74:968-970.
5. Chang B., et al. The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis. Neurosci. 2006, 23:11-24.
6. Chua J., et al. Functional remodeling of glutamate receptors by inner retinal neurons occurs from an early stage of retinal degeneration. J. Comp. Neurol. 2009, 514:473-491.
7. Crook Z.R., Housman D. Huntington's disease: can mice lead the way to treatment?. Neuron 2011, 69:423-435.
8. Dick O., et al. The presynaptic active zone protein bassoon is essential for photoreceptor ribbon synapse formation in the retina. Neuron 2003, 37:775-786.
9. Engelender S., et al. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. Hum. Mol. Genet. 1997, 6:2205-2212.
10. Fox M.A., Sanes J.R. Synaptotagmin I and II are present in distinct subsets of central synapses. J. Comp. Neurol. 2007, 503:280-296.
11. Greferath U., et al. Rod bipolar cells in the mammalian retina show protein kinase C-like immunoreactivity. J. Comp. Neurol. 1990, 301:433-442.
12. Gregg R.G., et al. Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness. J. Neurophysiol. 2007, 98:3023-3033.
13. Haverkamp S., et al. Synaptic plasticity in CNGA3(-/-) mice: cone bipolar cells react on the missing cone input and form ectopic synapses with rods. J. Neurosci. 2006, 26:5248-5255.
14. Helmlinger D., et al. Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. Hum. Mol. Genet. 2002, 11:3351-3359.
15. Hood D.C., Birch D.G. A quantitative measure of the electrical activity of human rod photoreceptors using electroretinography. Vis. Neurosci. 1990, 5:379-387.
16. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 1993, 72:971-983. Huntington's-Disease-Collaborative-Research-Group.
17. Jackson G.R., et al. Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 1998, 21:633-642.
18. Koulen P., et al. Immunocytochemical localization of the postsynaptic density protein PSD-95 in the mammalian retina. J. Neurosci. 1998, 18:10136-10149.
19. Li J.Y., et al. The use of the R6 transgenic mouse models of Huntington's disease in attempts to develop novel therapeutic strategies. NeuroRx 2005, 2:447-464.
20. Mangiarini L., et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996, 87:493-506.
21. Marc R.E., et al. Neural reprogramming in retinal degeneration. Investig. Ophthalmol. Vis. Sci. 2007, 48:3364-3371.
22. Masu M., et al. Sequence and expression of a metabotropic glutamate receptor. Nature 1991, 349:760-765.
23. McGuire J.R., et al. Interaction of huntingtin-associated protein-1 with kinesin light chain: implications in intracellular trafficking in neurons. J. Biol. Chem. 2006, 281:3552-3559.
24. Michalik A., et al. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur. J. Hum. Genet. 2004, 12:2-15.
25. Negishi K., et al. Dopamine cells and rod bipolar cells contain protein kinase C-like immunoreactivity in some vertebrate retinas. Neurosci. Lett. 1988, 94:247-252.
26. Nithianantharajah J., et al. Gene-environment interactions modulating cognitive function and molecular correlates of synaptic plasticity in Huntington's disease transgenic mice. Neurobiol. Dis. 2008, 29:490-504.
27. Paulus W., et al. Impairment of retinal increment thresholds in Huntington's disease. Ann. Neurol. 1993, 34:574-578.
28. Petrasch-Parwez E., et al. Fine-structural analysis and connexin expression in the retina of a transgenic model of Huntington's disease. J. Comp. Neurol. 2004, 479:181-197.
29. Petrasch-Parwez E., et al. Is the retina affected in Huntington disease?. Acta Neuropathol. 2005, 110:523-525.
30. Phipps J.A., et al. Paired-flash identification of rod and cone dysfunction in the diabetic rat. Investig. Ophthalmol. Vis. Sci. 2004, 45:4592-4600.
31. Pinto L.H., et al. Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse. Vis. Neurosci. 2007, 24:111-123.
32. Reddy P.H., et al. Recent advances in understanding the pathogenesis of Huntington's disease. Trends Neurosci. 1999, 22:248-255.
33. Romero E., et al. Suppression of neurodegeneration and increased neurotransmission caused by expanded full-length huntingtin accumulating in the cytoplasm. Neuron 2008, 57:27-40.
34. Roze E., et al. Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments. Curr. Opin. Neurol. 2008, 21:497-503.
35. Scholey J.M. Intraflagellar transport motors in cilia: moving along the cell's antenna. J. Cell Biol. 2008, 180:23-29.
36. Tagawa Y., et al. Immunohistological studies of metabotropic glutamate receptor subtype 6-deficient mice show no abnormality of retinal cell organization and ganglion cell maturation. J. Neurosci. 1999, 19:2568-2579.
37. Tobin A.J., Signer E.R. Huntington's disease: the challenge for cell biologists. Trends Cell Biol. 2000, 10:531-536.
38. Turmaine M., et al. Nonapoptotic neurodegeneration in a transgenic mouse model of Huntington's disease. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:8093-8097.
39. van Dellen A., et al. Delaying the onset of Huntington's in mice. Nature 2000, 404:721-722.
40. Vessey K.A., et al. Characterization of retinal function and glial cell response in a mouse model of oxygen-induced retinopathy. J. Comp. Neurol. 2011, 519:506-527.
41. Ward M.M., et al. Localization and possible function of P2Y(4) receptors in the rodent retina. Neuroscience 2008, 155:1262-1274.
42. Wassle H., et al. Cone contacts, mosaics, and territories of bipolar cells in the mouse retina. J. Neurosci. 2009, 29:106-117.
43. Weymouth A.E., Vingrys A.J. Rodent electroretinography: methods for extraction and interpretation of rod and cone responses. Prog. Retin. Eye Res. 2008, 27:1-44.
44. Zoghbi H.Y., Orr H.T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 2000, 23:217-247.