Identification of autoantibodies against TRPM1 in patients with paraneoplastic retinopathy associated with ON bipolar cell dysfunction

PLoS ONE

Volumn 6, Issue 5, 2011, Pages

  Kondo, Mineo ^a   Sanuki, Rikako ^b,c   Ueno, Shinji ^a   Nishizawa, Yuji ^d   Hashimoto, Naozumi ^a   Ohguro, Hiroshi ^e   Yamamoto, Shuichi ^f   Machida, Shigeki ^g   Terasaki, Hiroko ^a   Adamus, Grazyna ^h   Furukawa, Takahisa ^b,c  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA BIOSCIENCE INSTITUTE   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^d CHUBU UNIVERSITY   (Japan)

^e SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g IWATE MEDICAL UNIVERSITY   (Japan)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; TRANSIENT RECEPTOR POTENTIAL CHANNEL M1; TRANSIENT RECEPTOR POTENTIAL CHANNEL M1 ANTIBODY; UNCLASSIFIED DRUG; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRPM1 PROTEIN, HUMAN;

AGED; ANIMAL CELL; ANIMAL TISSUE; ANTIBODY BLOOD LEVEL; ANTIBODY DETECTION; ARTICLE; CELL DAMAGE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTRORETINOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOUSE; NONHUMAN; PARANEOPLASTIC RETINOPATHY; PARANEOPLASTIC SYNDROME; PHOTORECEPTOR; RETINA BIPOLAR GANGLION CELL; RETINOPATHY; SIGNAL TRANSDUCTION; BLOOD; CASE REPORT; IMMUNOLOGY; MELANOMA; PATHOLOGY; PATHOPHYSIOLOGY; RETINA DISEASE; WESTERN BLOTTING;

AGED; AUTOANTIBODIES; BLOTTING, WESTERN; ELECTRORETINOGRAPHY; HUMANS; MALE; MELANOMA; PARANEOPLASTIC SYNDROMES; RETINAL BIPOLAR CELLS; RETINAL DISEASES; TRPM CATION CHANNELS;

EID: 79956105681     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0019911     Document Type: Article

References (35)

1. Thirkill CE, FitzGerald P, Sergott RC, Roth AM, Tyler NK, et al. (1989) Cancer-associated retinopathy (CAR syndrome) with antibodies reacting with retinal, optic-nerve, and cancer cells. N Engl J Med 321: 1589-1594.
2. Chan JW, (2003) Paraneoplastic retinopathies and optic neuropathies. Surv Ophthalmol 48: 12-38.
3. Heckenlively JR, Ferreyra HA, (2008) Autoimmune retinopathy: A review and summary. Semin Immunopathol 30: 127-134.
4. Adamus G, (2009) Autoantibody targets and their cancer relationship in the pathogenicity of paraneoplastic retinopathy. Autoimmun Rev 8: 410-414.
5. Thirkill CE, Roth AM, Keltner JL, (1987) Cancer-associated retinopathy. Arch Ophthalmol 105: 372-375.
6. Jacobson DM, Thirkill CE, Tipping SJ, (1990) A clinical triad to diagnose paraneoplastic retinopathy. Ann Neurol 28: 162-167.
7. Milam AH, Saari JC, Jacobson SG, Lubinski WP, Feun LG, et al. (1993) Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy. Invest Ophthalmol Vis Sci 34: 91-100.
8. Alexander KR, Fishman GA, Peachey NS, Marchese AL, Tso MOM, (1992) "On" response defect in paraneoplastic night blindness with cutaneous malignant melanoma. Invest Ophthalmol Vis Sci 33: 477-483.
9. Lei B, Bush RA, Milam AH, Sieving PA, (2000) Human melanoma-associated retinopathy (MAR) antibodies alter the retinal ON-response of the monkey ERG in vivo. Invest Ophthalmol Vis Sci 41: 262-266.
10. Lu Y, Jia L, He S, Hurley MC, Leys MJ, et al. (2009) Melanoma-associated retinopathy: a paraneoplastic autoimmune complication. Arch Ophthalmol 127: 1572-1580.
11. Jacobson DM, Adamus G, (2001) Retinal anti-bipolar cell antibodies in a patient with paraneoplastic retinopathy and colon carcinoma. Am J Ophthalmol 131: 806-808.
12. Goetgebuer G, Kestelyn-Stevens AM, De Laey JJ, Kestelyn P, Leroy BP, (2008) Cancer-associated retinopathy (CAR) with electronegative ERG: a case report. Doc Ophthalmol 116: 49-55.
13. Koike C, Obara T, Uriu Y, Numata T, Sanuki R, et al. (2010) TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade. Proc Natl Acad Sci U S A 107: 332-337. Epub Dec. 4, 2009.
14. Koike C, Numata T, Ueda H, Mori Y, Furukawa T, (2010) TRPM1: A vertebrate TRP channel responsible for retinal ON bipolar function. Cell Calcium 48: 95-101.
15. Morgans CW, Zhang J, Jeffrey BG, Nelson SM, Burke NS, et al. (2009) TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells. Proc Natl Acad Sci U S A 106: 19174-19178.
16. Hartmann TB, Bazhin AV, Schadendorf D, Eichmüller SB, (2005) SEREX identification of new tumor antigens linked to melanoma-associated retinopathy. Int J Cancer 114: 88-93.
17. Nakamura M, Sanuki R, Yasuma TR, Onishi A, Nishiguchi KM, et al. (2010) TRPM1 mutations are associated with the complete form of congenital stationary night blindness. Mol Vis 16: 425-437.
18. Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, et al. (2009) Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet 85: 711-719.
19. van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, et al. (2009) Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet 85: 730-736.
20. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, et al. (2009) TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 85: 720-729.
21. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T, (1986) Congenital stationary night blindness with negative electroretinogram: A new classification. Arch Ophthalmol 104: 1013-1020.
22. Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, et al. (2000) Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet 26: 319-23.
23. Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, et al. (2000) The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet 26: 324-327.
24. Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, et al. (2005) Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci USA 102: 4884-4889.
25. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, (1987) On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness. Jpn J Ophthalmol 31: 81-87.
26. Houchin K, Purple RL, Wirtschafter JD, (1991) X-linked congenital stationary night blindness and depolarizing bipolar system dysfunction. [ARVO abstract]. Invest Ophthalml Vis Sci 32: S1229.
27. Young RSL, (1991) Low-frequency component of the photopic ERG in patients with X-linked congenital stationary night blindness. Clin Vis Sci 6: 309-315.
28. Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, et al. (2005) Primate retinal signaling pathways: Suppressing ON-pathway activity in monkey with glutamate analogues mimics human CSNB1-NYX genetic night blindness. J Neurophysiol 93: 481-492.
29. Polans AS, Witkowska D, Haley TL, Amundson D, Baizer L, et al. (1995) Recoverin, a photoreceptor-specific calcium-binding protein, is expressed by the tumor of a patient with cancer-associated retinopathy. Proc Natl Acad Sci U S A 92: 9176-9180.
30. Matsubara S, Yamaji Y, Sato M, Fujita J, Takahara J, (1996) Expression of a photoreceptor protein, recoverin, as a cancer-associated retinopathy autoantigen in human lung cancer cell lines. Br J Cancer 74: 1419-1422.
31. Ohguro H, Odagiri H, Miyagawa Y, Ohguro I, Sasaki M, et al. (2004) Clinicopathological features of gastric cancer cases and aberrantly expressed recoverin. Tohoku J Exp Med 202: 213-219.
32. Bazhin AV, Schadendorf D, Willner N, De Smet C, Heinzelmann A, et al. (2007) Photoreceptor proteins as cancer-retina antigens. Int J Cancer 120: 1268-76.
33. Keltner JL, Thirkill CE, (1999) The 22-kDa antigen in optic nerve and retinal diseases. J Neuroophthalmol 19: 71-83.
34. Potter MJ, Adamus G, Szabo SM, Lee R, Mohaseb K, et al. (2002) Autoantibodies to transducin in a patient with melanoma-associated retinopathy. Am J Ophthalmol 134: 128-30.
35. Shimazaki K, Jirawuthiworavong GV, Heckenlively JR, Gordon LK, (2008) Frequency of anti-retinal antibodies in normal human serum. J Neuro-Ophthalmol 28: 5-11.