The impairment of lysyl oxidase in keratoconus and in keratoconus- associated disorders

Journal of Neural Transmission

Volumn 120, Issue 6, 2013, Pages 977-982

  Dudakova, Lubica ^a   Jirsova, Katerina ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Connective tissue disorders; Keratoconus; Lysyl oxidase; Mitral valve prolapse

Indexed keywords

COLLAGEN; PROTEIN LYSINE 6 OXIDASE;

ARTICLE; COLLAGEN METABOLISM; CONNECTIVE TISSUE DISEASE; DISEASE ASSOCIATION; DOWN SYNDROME; ENZYME ACTIVITY; HUMAN; KERATOCONUS; MITRAL VALVE PROLAPSE; PATHOGENESIS; PRIORITY JOURNAL;

CONNECTIVE TISSUE DISEASES; HUMANS; KERATOCONUS; PROTEIN-LYSINE 6-OXIDASE;

EID: 84878718011     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-013-0993-1     Document Type: Article

References (76)

1. Alexander RA, Garner A (1983) Elastic and precursor fibres in the normal human eye. Exp Eye Res 36(2):305-315
2. Atilano SR, Coskun P, Chwa M, Jordan N, Reddy V, Le K, Wallace DC, Kenney MC (2005) Accumulation of mitochondrial DNA damage in keratoconus corneas. Invest Ophthalmol Vis Sci 46(4):1256-1263. doi: 10.1167/iovs.04-1395
3. Balasubramanian SA, Mohan S, Pye DC, Willcox MD (2012) Proteases, proteolysis and inflammatory molecules in the tears of people with keratoconus. Acta Ophthalmol 90(4):e303-e309. doi: 10.1111/j.1755-3768.2011.02369.x
4. Barnett ML, Friedman D, Kastner T (1988) The prevalence of mitral valve prolapse in patients with Down's syndrome: implications for dental management. Oral Surg Oral Med Oral Pathol 66(4):445-447
5. Bashey RI, Bashey HM, Jimenez SA (1978) Characterization of pepsin-solubilized bovine heart-valve collagen. Biochem J 173(3):885-894
6. Beardsley TL, Foulks GN (1982) An association of keratoconus and mitral valve prolapse. Ophthalmology 89(1):35-37
7. Belliveau MJ, Liao WN, Brownstein S, Manusow JS, Jordan DR, Gilberg S, Mintsioulis G (2012) Myxomatous corneal degeneration: a clinicopathological study of six cases and a review of the literature. Surv Ophthalmol 57(3):264-271. doi: 10.1016/j.survophthal.2011.09.006
8. Bisceglia L, De Bonis P, Pizzicoli C, Fischetti L, Laborante A, Di Perna M, Giuliani F, Delle Noci N, Buzzonetti L, Zelante L (2009) Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive loci. Invest Ophthalmol Vis Sci 50(3):1081-1086. doi: 10.1167/iovs.08-2382
9. Bykhovskaya Y, Li X, Epifantseva I, Haritunians T, Siscovick D, Aldave A, Szczotka-Flynn L, Iyengar SK, Taylor KD, Rotter JI, Rabinowitz YS (2012) Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies. Invest Ophthalmol Vis Sci 53(7):4152-4157. doi: 10.1167/iovs.11-9268
10. Cameron JA (1993) Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 12(1):54-59
11. Cavenaghi S, Marino LH, Oliveira PP, Lamari NM (2009) Joint hypermobility in patients with mitral valve prolapse. Arq Bras Cardiol 93(3):307-311
12. Chapman DW, Texas Heart Institute of St Luke's Episcopal Hospital, Texas Children's Hospital (1994) The cumulative risks of prolapsing mitral valve. 40 years of follow-up. Texas Heart Inst J 21(4):267-271
13. Chen X, Greenaway FT (2011) Identification of the disulfide bonds of lysyl oxidase. J Neural Transm 118(7):1111-1114. doi: 10.1007/s00702-010-0560-y
14. Coral K, Angayarkanni N, Madhavan J, Bharathselvi M, Ramakrishnan S, Nandi K, Rishi P, Kasinathan N, Krishnakumar S (2008) Lysyl oxidase activity in the ocular tissues and the role of LOX in proliferative diabetic retinopathy and rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci 49(11):4746-4752. doi: 10.1167/iovs.07-1550
15. Csiszar K (2001) Lysyl oxidases: a novel multifunctional amine oxidase family. Prog Nucleic Acid Res Mol Biol 70:1-32
16. Cullen JF, Butler HG (1963) Mongolism (Down's syndrome) and keratoconus. Br J Ophthalmol 47:321-330
17. De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L (2011) Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Mol Vis 17:2482-2494
18. Devereux RB, Perloff JK, Reichek N, Josephson ME (1976) Mitral valve prolapse. Circulation 54(1):3-14
19. Dudakova L, Liskova P, Trojek T, Palos M, Kalasova S, Jirsova K (2012) Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas. Exp Eye Res. doi: 10.1016/j.exer.2012.09.005
20. Edwards M, McGhee CN, Dean S (2001) The genetics of keratoconus. Clin Exp Ophthalmol 29(6):345-351
21. Evereklioglu C, Madenci E, Bayazit YA, Yilmaz K, Balat A, Bekir NA (2002) Central corneal thickness is lower in osteogenesis imperfecta and negatively correlates with the presence of blue sclera. Ophthalmic Physiol Opt 22(6):511-515
22. Greenfield G, Stein R, Romano A, Goodman RM (1973) Blue sclerae and keratoconus: key features of a distinct heritable disorder of connective tissue. Clin Genet 4(1):8-16
23. Guo Y, Pischon N, Palamakumbura AH, Trackman PC (2007) Intracellular distribution of the lysyl oxidase propeptide in osteoblastic cells. Am J Physiol Cell Physiol 292(6):C2095-C2102. doi: 10.1152/ajpcell.00613.2006
24. Guy TS, Hill AC (2012) Mitral valve prolapse. Annu Rev Med 63:277-292. doi: 10.1146/annurev-med-022811-091602
25. Ha VT, Marshall MK, Elsas LJ, Pinnell SR, Yeowell HN (1994) A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. J Clin Investig 93(4):1716-1721. doi: 10.1172/JCI117155
26. Hamada R, Giraud JP, Graf B, Pouliquen Y (1972) Analytical and statistical study of the lamellae, keratocytes and collagen fibrils of the central region of the normal human cornea (light and electron microscopy). Archives d'ophtalmologie et revue generale d'ophtalmologie 32(8):563-570
27. Hammer D, Leier CV, Baba N, Vasko JS, Wooley CF, Pinnell SR (1979) Altered collagen composition in a prolapsing mitral valve with ruptured chordae tendineae. Am J Med 67(5):863-866
28. Hestnes A, Sand T, Fostad K (1991) Ocular findings in Down's syndrome. J Ment Defic Res 35(Pt 3):194-203
29. Ihalainen A (1986) Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease. Acta Ophthalmologica Suppl 178:1-64
30. Jaffe AS, Geltman EM, Rodey GE, Uitto J (1981) Mitral valve prolapse: a consistent manifestation of type IV Ehlers-Danlos syndrome. The pathogenetic role of the abnormal production of type III collagen. Circulation 64(1):121-125
31. Javadi MA, Seadat H, Jafarinasab MR, Rafati N, Yousefi ZK, Farahani AV, Souri H, Anisian A (2007) Association of keratoconus and mitral valve prolapse. Iran J Ophthalmic Res 2(1):15-18
32. Kagan HM, Vaccaro CA, Bronson RE, Tang SS, Brody JS (1986) Ultrastructural immunolocalization of lysyl oxidase in vascular connective tissue. J Cell Biol 103(3):1121-1128
33. Kamma-Lorger CS, Boote C, Hayes S, Moger J, Burghammer M, Knupp C, Quantock AJ, Sorensen T, Di Cola E, White N, Young RD, Meek KM (2010) Collagen and mature elastic fibre organisation as a function of depth in the human cornea and limbus. J Struct Biol 169(3):424-430. doi: 10.1016/j.jsb.2009.11.004
34. Kanellopoulos AJ (2012) Long term results of a prospective randomized bilateral eye comparison trial of higher fluence, shorter duration ultraviolet A radiation, and riboflavin collagen cross linking for progressive keratoconus. Clin Ophthalmol 6:97-101. doi: 10.2147/OPTH.S27170
35. Kennedy RH, Bourne WM, Dyer JA (1986) A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 101(3):267-273
36. Kenney MC, Chwa M, Atilano SR, Tran A, Carballo M, Saghizadeh M, Vasiliou V, Adachi W, Brown DJ (2005) Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder. Invest Ophthalmol Vis Sci 46(3):823-832. doi: 10.1167/iovs.04-0549
37. Kim WJ, Rabinowitz YS, Meisler DM, Wilson SE (1999) Keratocyte apoptosis associated with keratoconus. Exp Eye Res 69(5):475-481. doi: 10.1006/exer.1999.0719
38. Konradsen TR, Koivula A, Kugelberg M, Zetterstrom C (2012) Corneal curvature, pachymetry, and endothelial cell density in Marfan syndrome. Acta Ophthalmol 90(4):375-379. doi: 10.1111/j.1755-3768.2010.01996.x
39. Kuivaniemi H (1985) Partial characterization of lysyl oxidase from several human tissues. Biochem J 230(3):639-643
40. Kuming BS, Joffe L (1977) Ehlers-Danlos syndrome associated with keratoconus. A case report. Suid-Afrikaanse tydskrif vir geneeskunde (S Afr Med J) 52(10):403-405
41. Lebwohl MG, Distefano D, Prioleau PG, Uram M, Yannuzzi LA, Fleischmajer R (1982) Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med 307(4):228-231. doi: 10.1056/NEJM198207223070406
42. Levine RA, Slaugenhaupt SA (2007) Molecular genetics of mitral valve prolapse. Curr Opin Cardiol 22(3):171-175. doi: 10.1097/HCO.0b013e3280f3bfcd
43. Lichter H, Loya N, Sagie A, Cohen N, Muzmacher L, Yassur Y, Weinberger D (2000) Keratoconus and mitral valve prolapse. Am J Ophthalmol 129(5):667-668
44. Liu QP, Zhang GB, Shao Y, Yi JL, Liu ZG, Tan YH, Chen W, Mao ZH, Wang L (2011) The morphology and thickness of cornea in patients with Marfan syndrome. Chin J Ophthalmol (Zhonghua yan ke za zhi) 47(3):235-241
45. Loh A, Hadziahmetovic M, Dunaief JL (2009) Iron homeostasis and eye disease. Biochim Biophys Acta 1790(7):637-649. doi: 10.1016/j.bbagen.2008.11.001
46. Lucero HA, Maki JM, Kagan HM (2011) Activation of cellular chemotactic responses to chemokines coupled with oxidation of plasma membrane proteins by lysyl oxidase. J Neural Transm 118(7):1091-1099. doi: 10.1007/s00702-011-0642-5
47. Mace M, Galiacy SD, Erraud A, Mejia JE, Etchevers H, Allouche M, Desjardins L, Calvas P, Malecaze F (2011) Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. Invest Ophthalmol Vis Sci 52(9):6181-6191. doi: 10.1167/iovs.10-70981
48. Marshall CE, Shappell SD (1974) Sudden death and the ballooning posterior leaflet syndrome. Detailed anatomic and histochemical investigation. Arch Pathol 98(2):134-138
49. Marshall GE, Konstas AG, Lee WR (1991) Immunogold fine structural localization of extracellular matrix components in aged human cornea. II. Collagen types V and VI. Graefes Arch Clin Exp Ophthalmol (Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie) 229(2):164-171
50. Mizobe Y, Oikawa D, Tsuyama S, Akimoto Y, Hamasu K, Onitsuka E, Sato M, Takahata Y, Morimatsu F, Furuse M (2008) mRNA expression of lysyl oxidase and matrix metalloproteinase-12 in mouse skin. Biosci Biotechnol Biochem 72(11):3067-3070
51. Molnar J, Fong KS, He QP, Hayashi K, Kim Y, Fong SF, Fogelgren B, Szauter KM, Mink M, Csiszar K (2003) Structural and functional diversity of lysyl oxidase and the LOX-like proteins. Biochim Biophys Acta 1647(1-2):220-224
52. Nasuti JF, Zhang PJ, Feldman MD, Pasha T, Khurana JS, Gorman JH, Gorman RC, Narula J, Narula N (2004) Fibrillin and other matrix proteins in mitral valve prolapse syndrome. Ann Thorac Surg 77(2):532-536
53. Newsome DA, Foidart JM, Hassell JR, Krachmer JH, Rodrigues MM, Katz SI (1981) Detection of specific collagen types in normal and keratoconus corneas. Invest Ophthalmol Vis Sci 20(6):738-750
54. Nielsen K, Birkenkamp-Demtroder K, Ehlers N, Orntoft TF (2003) Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. Invest Ophthalmol Vis Sci 44(6):2466-2476
55. Nishioka T, Eustace A, West C (2012) Lysyl oxidase: from basic science to future cancer treatment. Cell Struct Funct 37(1):75-80
56. Nowak DM, Gajecka M (2011) The genetics of keratoconus. Middle East Afr J Ophthalmol 18(1):2-6. doi: 10.4103/0974-9233.75876
57. Pinsard L, Touboul D, Vu Y, Lacombe D, Leger F, Colin J (2010) Keratoconus associated with Williams-Beuren syndrome: first case reports. Ophthalmic Genet 31(4):252-256. doi: 10.3109/13816810.2010.523038
58. Purushothaman M, K-Raman P, Adams D, Milla F, Lento PA, Peralta RR, Sharma S, Morento P (2012) Reduced lysyl oxidase expression is associated with reduced type I collagen and increased type III collagen deposition in myxomatous mitral valve degeneration. J Am Coll Cardiol 59(13s1):E 1992. doi: 10.1016/S0735-1097(12)61993-7
59. Rabbanikhah Z, Javadi MA, Rostami P, Aghdaie A, Yaseri M, Yahyapour F, Katibeh M (2011) Association between acute corneal hydrops in patients with keratoconus and mitral valve prolapse. Cornea 30(2):154-157. doi: 10.1097/ICO.0b013e3181e846a2
60. Rabinowitz YS (1998) Keratoconus. Surv Ophthalmol 42(4):297-319
61. Robertson I (1975) Keratoconus and the Ehlers-Danlos syndrome: a new aspect of keratoconus. Med J Aust 1(18):571-573
62. Sawaguchi S, Yue BY, Sugar J, Gilboy JE (1989) Lysosomal enzyme abnormalities in keratoconus. Arch Ophthalmol 107(10):1507-1510
63. Scordo KA (2005) Mitral valve prolapse syndrome health concerns, symptoms, and treatments. West J Nurs Res 27(4):390-405. doi: 10.1177/0193945904273617 (discussion 310-406)
64. Sethi A, Mao W, Wordinger RJ, Clark AF (2011) Transforming growth factor-beta induces extracellular matrix protein cross-linking lysyl oxidase (LOX) genes in human trabecular meshwork cells. Invest Ophthalmol Vis Sci 52(8):5240-5250. doi: 10.1167/iovs.11-7287
65. Sharif KW, Casey TA, Coltart J (1992) Prevalence of mitral valve prolapse in keratoconus patients. J R Soc Med 85(8):446-448
66. Sherman EB, Char F, Dungan WT, Campbell GS (1970) Myxomatous transformation of the mitral valve producing mitral insufficiency. Floppy valve syndrome. Am J Dis Child 119(2):171-175
67. Street DA, Vinokur ET, Waring GO 3rd, Pollak SJ, Clements SD, Perkins JV (1991) Lack of association between keratoconus, mitral valve prolapse, and joint hypermobility. Ophthalmology 98(2):170-176
68. Sugar J, Macsai MS (2012) What causes keratoconus? Cornea 31(6):716-719. doi: 10.1097/ICO.0b013e31823f8c72
69. Tamura K, Fukuda Y, Ferrans VJ (1998) Elastic fiber abnormalities associated with a leaflet perforation in floppy mitral valve. J Heart Valve Dis 7(4):460-466
70. Towbin JA (1999) Toward an understanding of the cause of mitral valve prolapse. Am J Hum Genet 65(5):1238-1241
71. Trackman PC, Bedell-Hogan D, Tang J, Kagan HM (1992) Post-translational glycosylation and proteolytic processing of a lysyl oxidase precursor. J Biol Chem 267(12):8666-8671
72. Uzel MI, Scott IC, Babakhanlou-Chase H, Palamakumbura AH, Pappano WN, Hong HH, Greenspan DS, Trackman PC (2001) Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures. J Biol Chem 276(25):22537-22543. doi: 10.1074/jbc. M102352200
73. Wajntal A, Koiffmann CP, Mendonça BB, Epps-Quaglia D, Sotto MN, Rati PB, Opitz JM (1990) GAPO syndrome (McKusick 23074) - a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. Am J Med Genet 37(2):213-223
74. Wollensak G (2006) Crosslinking treatment of progressive keratoconus: new hope. Curr Opin Ophthalmol 17(4):356-360. doi: 10.1097/01.icu.0000233954.86723. 25
75. Woodward EG, Morris MT (1990) Joint hypermobility in keratoconus. Ophthalmic Physiol Opt 10(4):360-362
76. Zhou L, Sawaguchi S, Twining SS, Sugar J, Feder RS, Yue BY (1998) Expression of degradative enzymes and protease inhibitors in corneas with keratoconus. Invest Ophthalmol Vis Sci 39(7):1117-1124