Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells

Human Molecular Genetics

Volumn 14, Issue 23, 2005, Pages 3579-3586

  Langton, Kevin P ^a   McKie, Norman ^b   Smith, Brenda M ^a   Brown, Nicola J ^a   Barker, Michael D ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GELATINASE A; TISSUE INHIBITOR OF METALLOPROTEINASE 3;

ANGIOGENESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL CULTURE; CONTROLLED STUDY; DISULFIDE BOND; ENZYME ACTIVATION; ENZYME ACTIVITY; EPITHELIUM CELL; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MUTANT; PATHOGENESIS; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DISEASE; SORSBY FUNDUS DYSTROPHY; WESTERN BLOTTING; WILD TYPE;

CELLS, CULTURED; FUNDUS OCULI; HUMANS; MATRIX METALLOPROTEINASE 2; MUTATION; PIGMENT EPITHELIUM OF EYE; RETINAL DEGENERATION; TISSUE INHIBITOR OF METALLOPROTEINASE-3;

EID: 28744441898     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi385     Document Type: Article

References (54)

1. Sorsby, A. and Mason, M.E. (1949) A fandus dystrophy with unusual features. Br. J. Opthalmol., 33, 67-97.
2. Capon, M.R.C., Polkinghorne, P.J., Fitzke, F.W. and Bird, A.C. (1988) Sorsbys pseudoinflammatory macula dystrophy - Sorsbys fundus dystrophies. Eye, 2, 114-122.
3. Polkinghorne, P.J., Capon, M.R.C., Berninger, T., Lyness, A.L., Sehmi, K. and Bird, A.C. (1989) Sorsby fundus dystrophy - a clinical-study. Ophthalmology, 96, 1763-1768.
4. Clarke, M., Mitchell, K.W., Goodship, J., McDonnell, S., Barker, M.D., Griffiths, I.D. and McKie, N. (2001) Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: Implications for disease mechanism. Br. J. Ophthalmol., 85, 1429-1431.
5. Evans, J.R. (2001) Risk factors for age-related macular degeneration. Prog. Retin. Eye Res., 20, 227-253.
6. Brew, K., Dinakarpandian, D. and Nagase, H. (2000) Tissue inhibitors of metalloproteinases: Evolution, structure and function. Biochim. Biophys. Acta, 1477, 267-283.
7. Murphy, G., Houbrechts, A., Cockett, M.I., Williamson, R.A., Oshea, M. and Docherty, A.J.P. (1991) The N-terminal domain of tissue inhibitor of metalloproteinases retains metalloproteinase inhibitory activity. Biochemistry, 30, 8097-8101.
8. Declerck, Y.A., Yean, T.D., Lee, Y., Tomich, J.M. and Langley, K.E. (1993) Characterization of the functional domain of tissue inhibitor of metalloproteinases-2 (TIMP-2). Biochem. J., 289, 65-69.
9. Langton, K.P., Barker, M.D. and McKie, N. (1998) Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 (TIMP-3) and the effects of a Sorsby's fundus dystrophy mutation. J. Biol. Chem., 273, 16778-16781.
10. Leco, K.J., Khokha, R., Pavloff, N., Hawkes, S.P. and Edwards, D.R. (1994) Tissue inhibitor of metalloproteinases-3 (TIMP-3) is an extracellular matrix-associated protein with a distinctive pattern of expression in mouse cells and tissues. J. Biol. Chem., 269, 9352-9360.
11. Kashiwagi, M., Tortorella, M., Nagase, H. and Brew, K. (2001) TIMP-3 is a potent inhibitor of aggrecanase 1 (ADAM-TS4) and aggrecanase 2 (ADAM-TS5). J. Biol. Chem., 276, 12501-12504.
12. Lee, M.H., Knauper, V., Becherer, J.D. and Murphy, G. (2001) Full-length and N-TIMP-3 display equal inhibitory activities toward TNF-alpha convertase. Biochem. Biophys. Res. Commun., 280, 945-950.
13. Bond, M., Murphy, G., Bennett, M.R., Amour, A., Knauper, V., Newby, A.C. and Baker, A.H. (2000) Localization of the death domain of tissue inhibitor of metalloproteinase-3 to the N terminus. Metalloproteinase inhibition is associated with proapoptotic activity. J. Biol. Chem., 275, 41358-41363.
14. Majid, M.A., Smith, V.A., Easty, D.L., Baker, A.H. and Newby, A.C. (2002) Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells. FEBS Lett., 529, 281-285.
15. Fariss, R.N., Apte, S.S., Olsen, B.R., Iwata, K. and Milam, A.H. (1997) Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye. Am. J. Pathol., 150, 323-328.
16. Vranka, J.A., Johnson, E., Zhu, X.H., Shepardson, A., Alexander, J.P., Bradley, J.M.B., Wirtz, M.K., Weleber, R.G., Klein, M.L. and Acott, T.S. (1997) Discrete expression and distribution pattern of TIMP-3 in the human retina and choroid. Curr. Eye Res., 16, 102-110.
17. Felbor, U., Stohr, H., Amann, T., Schonherr, U. and Weber, B.H.F. (1995) A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsbys fundus dystrophy with unusual clinical-features. Hum. Mol. Genet., 4, 2415-2416.
18. Felbor, U., Suvanto, E.A., Forsius, H.R., Eriksson, A.W. and Weber, B.H.F. (1997) Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am. J. Hum. Genet., 60, 57-62.
19. Jacobson, S.G., Cideciyan, A.V., Regunath, G., Rodriguez, F.J., Vandenburgh, K., Sheffield, V.C. and Stone, E.M. (1995) Night blindness in Sorsbys-fundus-dystrophy reversed by vitamin-A. Nat. Genet., 11, 27-32.
20. Weber, B.H.F., Vogt, G., Pruett, R.C., Stohr, H. and Felbor, U. (1994) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsbys fundus dystrophy. Nat. Genet., 8, 352-356.
21. Barbazetto, I.A., Hayashi, M., Klais, C.M., Yannuzzi, L.A. and Allikmets, R. (2005) A novel TIMP3 mutation associated with Sorsby fundus dystrophy. Arch. Ophthalmol., 123, 542-543.
22. Jacobson, S.G., Cideciyan, A.V., Bennett, J., Kingsley, R.M., Sheffield, V.C. and Stone, E.M. (2002) Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch. Ophthalmol., 120, 376-379.
23. Tabata, Y., Isashiki, Y., Kamimura, K., Nakao, K. and Ohba, N. (1998) A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features. Hum. Genet., 103, 179-182.
24. Langton, K.P., McKie, N., Curtis, A., Goodship, J.A., Bond, P.M., Barker, M.D. and Clarke, M. (2000) A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. J. Biol. Chem., 275, 27027-27031.
25. Yeow, K.M., Kishnani, N.S., Hutton, M., Hawkes, S.P., Murphy, G. and Edwards, D.R. (2002) Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix. Matrix Biol., 21, 75-88.
26. Fariss, R.N., Apte, S.S., Luthert, P.J., Bird, A.C. and Milam, A.H. (1998) Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. Br. J. Ophthalmol., 82, 1329-1334.
27. Kamei, M. and Hollyfield, J.G. (1999) TIMP-3 in Bruch's membrane: changes during aging and in age-related macular degeneration. Invest. Ophthalmol. Vis. Sci., 40, 2367-2375.
28. Chong, N.H.V., Alexander, R.A., Gin, T., Bird, A.C. and Luthert, P.J. (2000) TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. Invest. Ophthalmol. Vis. Sci., 41, 898-902.
29. Chong, N.H., Kvanta, A., Seregard, S., Bird, A.C., Luthert, P.J. and Steen, B. (2003) TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. Am. J. Ophthalmol., 136, 954-955.
30. Bailey, T.A., Alexander, R.A., Dubovy, S.R., Luthert, P.J. and Chong, N.H. (2001) Measurement of TIMP-3 expression and Bruch's membrane thickness in human macula. Exp. Eye Res., 73, 851-858.
31. Wingfield, P.T., Sax, J.K., Stahl, S.J., Kaufman, J., Palmer, I., Chung, V., Corcoran, M.L., Kleiner, D.E. and Stetler-Stevenson, W.G. (1999) Biophysical and functional characterization of full-length, recombinant human tissue inhibitor of metalloproteinases-2 (TIMP-2) produced in Escherichia coli - comparison of wild type and amino-terminal alanine appended variant with implications for the mechanism of TIMP functions. J. Biol. Chem., 274, 21362-21368.
32. Arris, C.E., Bevitt, D.J., Mohamed, J., Zheng, L., Langton, K.P., Barker, M.D., Clarke, M.P. and McKie, N. (2003) Expression of mutant and wild-type TIMP-3 in primary gingival fibroblasts from Sorsbys Fundus Dystrophy patients. Biochim. Biophys. Acta, 1638, 20-28.
33. Weber, B.H., Lin, B., White, K., Kohler, K., Soboleva, G., Herterich, S., Seeliger, M.W., Jaissle, G.B., Grimm, C., Reme, C. et al. (2002) A mouse model for Sorsby fundus dystrophy. Invest. Ophthalmol. Vis. Sci., 43, 2732-2740.
34. Kaida, M., Cao, F., Skumatz, C.M., Irving, P.E. and Burke, J.M. (2000) Time at confluence for human RPE cells: Effects on the adherens junction and in vitro wound closure. Invest. Ophthalmol. Vis. Sci., 41, 3215-3224.
35. Dunn, K.C., Aotaki-Keen, A.E., Putkey, F.R. and Hjelmeland, L.M. (1996) ARPE-19, a human retinal pigment epithelial cell line with differentiated properties. Exp. Eye Res., 62, 155-169.
36. Stetler-Stevenson, W.G. (1999) Matrix metalloproteinases in angiogenesis: A moving target for therapeutic intervention. J. Clin. Invest., 103, 1237-1241.
37. Will, H., Atkinson, S.J., Butler, G.S., Smith, B. and Murphy, G. (1996) The soluble catalytic domain of membrane type-1 matrix metalloproteinase cleaves the propeptide of progelatinase-A and initiates autoproteolytic activation - regulation by TIMP-2 and TIMP-3. J. Biol. Chem., 271, 17119-17123.
38. Qi, J.H., Ebrahem, Q., Yeow, K., Edwards, D.R., Fox, P.L. and Anand-Apte, B. (2002) Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. J. Biol. Chem., 277, 13394-13400.
39. Jiang, A., Lehti, K., Wang, X., Weiss, S.J., Keski-Oja, J. and Pei, D. (2001) Regulation of membrane-type matrix metalloproteinase 1 activity by dynamin-mediated endocytosis. Proc. Natl Acad. Sci. USA, 98, 13693-13698.
40. Soboleva, G., Geis, B., Schrewe, H. and Weber, B.H. (2003) Sorsby fundus dystrophy mutation TIMP3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. J. Cell. Physiol., 197, 149-156.
41. Yang, T.T. and Hawkes, S.P. (1992) Role of the 21-kDa protein TIMP-3 in oncogenic transformation of cultured chicken-embryo fibroblasts. Proc. Natl Acad. Sci USA, 89, 10676-10680.
42. Kaplan, H.J., Leibole, M.A., Tezel, T. and Ferguson, T.A. (1999) Fas ligand (CD95 ligand) controls angiogenesis beneath the retina. Nat. Med., 5, 292-297.
43. Marmorstein, L.Y., Munier, F.L., Arsenijevic, Y., Schorderet, D.F., McLaughlin, P.J., Chung, D., Traboulsi, E. and Marmorstein, A.D. (2002) Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc. Natl Acad. Sci. USA, 99, 13067-13072.
44. Klenotic, P.A., Munier, F.L., Marmorstein, L.Y. and Anand-Apte, B. (2004) Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1): Implications for macular degenerations. J. Biol. Chem., 279, 30469-30473.
45. Daiger, S.P. (2005) Genetics. Was the human genome project worth the effort? Science, 308, 362-364.
46. Mullins, R.F., Aptsiauri, N. and Hageman, G.S. (2001) Structure and composition of drusen associated with glomerulonephritis: Implications for the role of complement activation in drusen biogenesis. Eye, 15, 390-395.
47. Crabb, J.W., Miyagi, M., Gu, X., Shadrach, K., West, K.A., Sakaguchi, H., Kamei, M., Hasan, A., Yan, L., Rayborn, M.E. et al. (2002) Drusen proteome analysis: An approach to the etiology of age-related macular degeneration. Proc. Natl Acad. Sci. USA, 99, 14682-14687.
48. Beatty, S., Koh, H., Phil, M., Henson, D. and Boulton, M. (2000) The role of oxidative stress in the pathogenesis of age-related macular degeneration. Surv. Ophthalmol., 45, 115-134.
49. Macario, A.J. and Conway de Macario, E. (2002) Sick chaperones and ageing: A perspective. Ageing Res. Rev., 1, 295-311.
50. Paschen, W. and Frandsen, A. (2001) Endoplasmic reticulum dysfunction - a common denominator for cell injury in acute and degenerative diseases of the brain? J. Neurochem., 79, 719-725.
51. Abecasis, G.R., Yashar, B.M., Zhao, Y., Ghiasvand, N.M., Zareparsi, S., Branham, K.E., Reddick, A.C., Trager, E.H., Yoshida, S., Bahling, J. et al. (2004) Age-related macular degeneration: A high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am. J. Hum. Genet., 74, 482-494.
52. Langton, K.P. (2000) Structure/function studies on tissue inhibitor of metalloproteinases-3. PhD Thesis, University of Sheffield, Sheffield, UK.
53. Yu, W.H., Yu, S., Meng, Q., Brew, K. and Woessner, J.F., Jr. (2000) TIMP-3 binds to sulfated glycosaminoglycans of the extracellular matrix. J. Biol. Chem., 275, 31226-31232.
54. Fischer, S.J. and Werb, W. (1995) The catabolism of extracellular matrix components. In Haralson, M.A. and Hassel, J.R. (eds), Extracellular Matrix: A Practical Approach, 1st edn. IRL press, Oxford, Vol. 151, pp. 261-287.