Increased expression of multifunctional serine protease, HTRA1, in retinal pigment epithelium induces polypoidal choroidal vasculopathy in mice

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 35, 2011, Pages 14578-14583

  Jones, Alex ^a   Kumar, Sandeep ^a   Zhang, Ning ^a,f   Tong, Zongzhong ^a   Yang, Jia Hui ^a   Watt, Carl ^a   Anderson, James ^a   Amrita, ^a   Fillerup, Heather ^a   McCloskey, Manabu ^a   Luo, Ling ^a   Yang, Zhenglin ^b   Ambati, Balamurali ^a   Marc, Robert ^a   Oka, Chio ^c   Zhang, Kang ^d,e   Fu, Yingbin ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^c NARA INSTITUTE OF SCIENCE AND TECHNOLOGY   (Japan)

^d SICHUAN UNIVERSITY   (China)

^e UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^f CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HTRA1 ENZYME; SERINE PROTEINASE; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRUCH MEMBRANE; CHOROID VASCULARIZATION; ENZYME ACTIVITY; MOUSE; NONHUMAN; PHOTORECEPTOR; PIGMENT EPITHELIUM; POLYPOIDAL CHOROIDAL VASCULOPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RETINA MACULA AGE RELATED DEGENERATION; TUNICA MEDIA; UPREGULATION;

ANIMALS; CHOROIDAL NEOVASCULARIZATION; HUMANS; MACULAR DEGENERATION; MICE; MICE, INBRED C57BL; MICE, INBRED CBA; NEOVASCULARIZATION, PATHOLOGIC; PANCREATIC ELASTASE; PROTEINS; RETINAL PIGMENT EPITHELIUM; SERINE ENDOPEPTIDASES; VASCULAR ENDOTHELIAL GROWTH FACTOR A;

MUS;

EID: 80052302059     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1102853108     Document Type: Article

References (51)

1. Swaroop A., Chew E.Y., Rickman C.B., Abecasis G.R. (2009) Unraveling a multifactorial late-onset disease:From genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet 10:19-43.
2. Ding X., Patel M., Chan C.C. (2009) Molecular pathology of age-related macular degeneration. Prog Retin Eye Res 28(1):1-18.
3. Yannuzzi L.A., Sorenson J., Spaide R.F., Lipson B. (1990) Idiopathic polypoidal choroidal vasculopathy (IPCV). Retina 10(1):1-8. (Pubitemid 20201879)
4. Spaide R.F., Yannuzzi L.A., Slakter J.S., Sorenson J., Orlach D.A. (1995) Indocyanine green videoangiography of idiopathic polypoidal choroidal vasculopathy. Retina 15(2):100-110.
5. Lim T.H., Laude A., Tan C.S. (2010) Polypoidal choroidal vasculopathy:An angiographic discussion. Eye (Lond) 24:483-490.
6. Majewski J., et al. (2003) Age-related macular degeneration - A genome scan in extended families. Am J Hum Genet 73:540-550. (Pubitemid 37076268)
7. Fisher S.A., et al. (2005) Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14:2257-2264. (Pubitemid 41418025)
8. Kondo N., Honda S., Ishibashi K., Tsukahara Y., Negi A. (2007) LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population. Am J Ophthalmol 144:608-612.
9. Lee K.Y., et al. (2008) Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 49:2613-2619.
10. Lima L.H., et al. (2010) Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. Ophthalmology 117: 1567-1570.
11. Dewan A., et al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314:989-992.
12. Yang Z., et al. (2006) A variant of the HTRA1 gene increases susceptibility to agerelated macular degeneration. Science 314:992-993. (Pubitemid 44749944)
13. Kanda A., et al. (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 104:16227-16232. (Pubitemid 350099389)
14. Nie G.Y., Hampton A., Li Y., Findlay J.K., Salamonsen L.A. (2003) Identification and cloning of two isoforms of human high-temperature requirement factor A3 (HtrA3), characterization of its genomic structure and comparison of its tissue distribution with HtrA1 and HtrA2. Biochem J 371:39-48. (Pubitemid 36458077)
15. Zurawa-Janicka D., Skorko-Glonek J., Lipinska B. (2010) HtrA proteins as targets in therapy of cancer and other diseases. Expert Opin Ther Targets 14:665-679.
16. Fritsche L.G., et al. (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 40:892-896. (Pubitemid 351913654)
17. Kortvely E., et al. (2010) ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci 51:79-88.
18. Friedrich U., et al. (2011) Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Hum Mol Genet 20:1387-1399.
19. Yang Z., et al. (2010) Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet 6:e1000836.
20. Chan C.C., et al. (2007) Human HtrA1 in the archived eyes with age-related macular degeneration. Trans Am Ophthalmol Soc 105:92-97, discussion 97-98.
21. Tuo J., et al. (2008) The HtrA1 promoter polymorphism, smoking, and age-relatedmacular degeneration in multiple case-control samples. Ophthalmology 115:1891-1898.
22. Kanda A., et al. (2010) Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol Vis 16:1317-1323.
23. Wang G., et al. (2010) Analysis of the indel at the ARMS2 3′ UTR in age-related macular degeneration. Hum Genet 127:595-602.
24. An E., Sen S., Park S.K., Gordish-Dressman H., Hathout Y. (2010) Identification of novel substrates for the serine protease HTRA1 in the human RPE secretome. Invest Ophthalmol Vis Sci 51:3379-3386.
25. Esumi N., Oshima Y., Li Y., Campochiaro P.A., Zack D.J. (2004) Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation. J Biol Chem 279: 19064-19073. (Pubitemid 38623337)
26. Picanço-Castro V., Russo-Carbolante E.M., Fontes A.M., Fernandes A.C., Covas D.T. (2008) An enhancer/promoter combination strengthens the expression of blood-coagulation factor VIII in non-viral expression vectors. Genet Mol Res 7:314-325.
27. Ong S.T., Li F., Du J., Tan Y.W., Wang S. (2005) Hybrid cytomegalovirus enhancer-h1 promoter-based plasmid and baculovirus vectors mediate effective RNA interference. Hum Gene Ther 16:1404-1412. (Pubitemid 41829015)
28. Barnhart K.M., Hartikka J., Manthorpe M., Norman J., Hobart P. (1998) Enhancer and promoter chimeras in plasmids designed for intramuscular injection:A comparative in vivo and in vitro study. Hum Gene Ther 9:2545-2553. (Pubitemid 29004627)
29. Canfield A.E., Hadfield K.D., Rock C.F., Wylie E.C., Wilkinson F.L. (2007) HtrA1:A novel regulator of physiological and pathological matrix mineralization? Biochem Soc Trans 35:669-671. (Pubitemid 47310337)
30. Clausen T., Southan C., Ehrmann M. (2002) The HtrA family of proteases:Implications for protein composition and cell fate. Mol Cell 10:443-455. (Pubitemid 35284166)
31. Yuzawa M., Mori R., Kawamura A. (2005) The origins of polypoidal choroidal vasculopathy. Br J Ophthalmol 89:602-607. (Pubitemid 40569719)
32. Terasaki H., Miyake Y., Suzuki T., Nakamura M., Nagasaka T. (2002) Polypoidal choroidal vasculopathy treated with macular translocation:Clinical pathological correlation. Br J Ophthalmol 86:321-327. (Pubitemid 34206348)
33. Nakashizuka H., et al. (2008) Clinicopathologic findings in polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 49:4729-4737.
34. Chong N.H., et al. (2005) Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with agerelated macular degeneration. Am J Pathol 166:241-251. (Pubitemid 40051676)
35. Booij J.C., Baas D.C., Beisekeeva J., Gorgels T.G., Bergen A.A. (2010) The dynamic nature of Bruch's membrane. Prog Retin Eye Res 29(1):1-18.
36. Curcio C.A., Millican C.L. (1999) Basal linear deposit and large drusen are specific for early age-related maculopathy. Arch Ophthalmol 117:329-339. (Pubitemid 29133727)
37. Witmer A.N., Vrensen G.F., Van Noorden C.J., Schlingemann R.O. (2003) Vascular endothelial growth factors and angiogenesis in eye disease. Prog Retin Eye Res 22(1):1-29. (Pubitemid 36207453)
38. Tong J.P., et al. (2006) Aqueous humor levels of vascular endothelial growth factor and pigment epithelium-derived factor in polypoidal choroidal vasculopathy and choroidal neovascularization. Am J Ophthalmol 141:456-462.
39. Matsuoka M., et al. (2004) Expression of pigment epithelium derived factor and vascular endothelial growth factor in choroidal neovascular membranes and polypoidal choroidal vasculopathy. Br J Ophthalmol 88:809-815. (Pubitemid 38725593)
40. Gomi F., et al. (2008) Efficacy of intravitreal bevacizumab for polypoidal choroidal vasculopathy. Br J Ophthalmol 92(1):70-73.
41. Lai T.Y., Chan W.M., Liu D.T., Luk F.O., Lam D.S. (2008) Intravitreal bevacizumab (Avastin) with or without photodynamic therapy for the treatment of polypoidal choroidal vasculopathy. Br J Ophthalmol 92:661-666. (Pubitemid 351684177)
42. Cho M., Barbazetto I.A., Freund K.B. (2009) Refractory neovascular age-related macular degeneration secondary to polypoidal choroidal vasculopathy. Am J Ophthalmol 148(1):70-78.e1.
43. Stangos A.N., et al. (2010) Polypoidal choroidal vasculopathy masquerading as neovascular age-related macular degeneration refractory to ranibizumab. Am J Ophthalmol 150:666-673.
44. Hara K., et al. (2009) Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med 360:1729-1739.
45. Runyon S.T., et al. (2007) Structural and functional analysis of the PDZ domains of human HtrA1 and HtrA3. Protein Sci 16:2454-2471. (Pubitemid 350036751)
46. Murwantoko, et al. (2004) Binding of proteins to the PDZ domain regulates proteolytic activity of HtrA1 serine protease. Biochem J 381:895-904. (Pubitemid 39120501)
47. Ng T.K., et al. (2011) Interactive expressions of HtrA1 and VEGF in human vitreous humors and fetal RPE cells. Invest Ophthalmol Vis Sci 52:3706-3712.
48. Sivaprasad S., Chong N.V., Bailey T.A. (2005) Serum elastin-derived peptides in agerelated macular degeneration. Invest Ophthalmol Vis Sci 46:3046-3051. (Pubitemid 44268947)
49. Andreoli M.T., et al. (2009) Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced agerelated macular degeneration. Am J Ophthalmol 148:869-874.
50. Gotoh N., et al. (2008) Correlation between CFH Y402H and HTRA1 rs11200638 genotype to typical exudative age-related macular degeneration and polypoidal choroidal vasculopathy phenotype in the Japanese population. Clin Experiment Ophthalmol 36:437-442.
51. Sobrin L., et al. (2011) ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. Am J Ophthalmol 151: 345-352.e3.