Table of Contents Author Guidelines Submit a Manuscript
Disease Markers
Volume 2014, Article ID 507356, 8 pages
http://dx.doi.org/10.1155/2014/507356
Research Article

Variability of the Transferrin Receptor 2 Gene in AMD

1Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland
2Department of Ophthalmology, Medical University of Silesia, Ceglana 35, 40-514 Katowice, Poland
3Laser Centrum Okulistyczne, ul. Boya 4A/24, 00-621 Warsaw, Poland
4Department of Ophthalmology, Medical University of Warsaw, ul. Lindleya 4, 02-005 Warsaw, Poland
5Department of Developmental Dentistry, Medical University of Lodz, Pomorska 251, 92-216 Lodz, Poland
6Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland

Received 24 October 2013; Accepted 17 December 2013; Published 6 February 2014

Academic Editor: Fabrizia Bamonti

Copyright © 2014 Daniel Wysokinski et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. H. K. Hamdi and C. Kenney, “Age-related macular degeneration: a new viewpoint,” Frontiers in Bioscience, vol. 8, pp. e305–e314, 2003. View at Publisher · View at Google Scholar · View at Scopus
  2. S. B. Bressler, “Introduction: understanding the role of angiogenesis and antiangiogenic agents in age-related macular degeneration,” Ophthalmology, vol. 116, no. 10, supplement, pp. S1–S7, 2009. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Khandhadia and A. Lotery, “Oxidation and age-related macular degeneration: insights from molecular biology,” Expert Reviews in Molecular Medicine, vol. 12, article e34, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. S. G. Jarrett and M. E. Boulton, “Consequences of oxidative stress in age-related macular degeneration,” Molecular Aspects of Medicine, vol. 33, no. 4, pp. 399–417, 2012. View at Publisher · View at Google Scholar · View at Scopus
  5. K. Jomova and M. Valko, “Advances in metal-induced oxidative stress and human disease,” Toxicology, vol. 283, no. 2-3, pp. 65–87, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. P. Hahn, A. H. Milam, and J. L. Dunaief, “Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigment epithelium and Bruch's membrane,” Archives of Ophthalmology, vol. 121, no. 8, pp. 1099–1105, 2003. View at Publisher · View at Google Scholar · View at Scopus
  7. J. L. Dunaief, C. Richa, E. P. Franks et al., “Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload,” Ophthalmology, vol. 112, no. 6, pp. 1062–1065, 2005. View at Publisher · View at Google Scholar · View at Scopus
  8. A. C. G. Chua, R. M. Graham, D. Trinder, and J. K. Olynyk, “The regulation of cellular iron metabolism,” Critical Reviews in Clinical Laboratory Sciences, vol. 44, no. 5-6, pp. 413–459, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. I. Chowers, R. Wong, T. Dentchev et al., “The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration,” Investigative Ophthalmology & Visual Science, vol. 47, no. 5, pp. 2135–2140, 2006. View at Publisher · View at Google Scholar · View at Scopus
  10. R. M. Graham, G. M. Reutens, C. E. Herbison et al., “Transferrin receptor 2 mediates uptake of transferrin-bound and non-transferrin-bound iron,” Journal of Hepatology, vol. 48, no. 2, pp. 327–334, 2008. View at Publisher · View at Google Scholar · View at Scopus
  11. Y. Deugnier, “The iron driven pathway of hepcidin synthesis,” Gastroentérologie Clinique et Biologique, vol. 34, no. 6-7, pp. 351–354, 2010. View at Publisher · View at Google Scholar
  12. J. Chen and C. A. Enns, “Hereditary hemochromatosis and transferrin receptor 2,” Biochimica et Biophysica Acta, vol. 1820, no. 3, pp. 256–263, 2012. View at Publisher · View at Google Scholar · View at Scopus
  13. C. J. Hammond, A. R. Webster, H. Snieder, A. C. Bird, C. E. Gilbert, and T. D. Spector, “Genetic influence on early age-related maculopathy: a twin study,” Ophthalmology, vol. 109, no. 4, pp. 730–736, 2002. View at Publisher · View at Google Scholar · View at Scopus
  14. Y. Chen, M. Bedell, and K. Zhang, “Age-related macular degeneration: genetic and environmental factors of disease,” Molecular Interventions, vol. 10, no. 5, pp. 271–281, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. F. L. Ferris, M. D. Davis, T. E. Clemons et al., “A simplified severity scale for age-related macular degeneration: AREDS report no. 18,” Archives of Ophthalmology, vol. 123, no. 11, pp. 1570–1574, 2005. View at Publisher · View at Google Scholar · View at Scopus
  16. F. Roth, A. Bindewald, and F. G. Holz, “Keypathophysiologic pathways in age-related macular disease,” Graefe's Archive for Clinical and Experimental Ophthalmology, vol. 242, no. 8, pp. 710–716, 2004. View at Publisher · View at Google Scholar · View at Scopus
  17. D. H. Sliney, “How light reaches the eye and its components,” International Journal of Toxicology, vol. 21, no. 6, pp. 501–509, 2002. View at Publisher · View at Google Scholar · View at Scopus
  18. S. Beatty, H. Koh, M. Phil, D. Henson, and M. Boulton, “The role of oxidative stress in the pathogenesis of age-related macular degeneration,” Survey of Ophthalmology, vol. 45, no. 2, pp. 115–134, 2000. View at Publisher · View at Google Scholar · View at Scopus
  19. A. E. Dontsov, N. L. Sakina, A. M. Golubkov, and M. A. Ostrovsky, “Light-induced release of A2E photooxidation toxic products from lipofuscin granules of human retinal pigment epithelium,” Doklady Biochemistry and Biophysics, vol. 425, no. 1, pp. 98–101, 2009. View at Publisher · View at Google Scholar · View at Scopus
  20. G. F. de Souza, M. C. Barbosa, T. E. Santos et al., “Increased parameters of oxidative stress and its relation to transfusion iron overload in patients with myelodysplastic syndromes,” Journal of Clinical Pathology, vol. 66, no. 11, pp. 996–998, 2013. View at Publisher · View at Google Scholar
  21. W. Lu, M. Zhao, S. Rajbhandary et al., “Free iron catalyzes oxidative damage to hematopoietic cells/mesenchymal stem cells in vitro and suppresses hematopoiesis in iron overload patients,” European Journal of Haematology, vol. 91, no. 3, pp. 249–261, 2013. View at Publisher · View at Google Scholar
  22. D. J. Messner, B. H. Rhieu, and K. V. Kowdley, “Iron overload causes oxidative stress and impaired insulin signaling in AML-12 hepatocytes,” Digestive Diseases and Sciences, vol. 58, no. 7, pp. 1899–1908, 2013. View at Publisher · View at Google Scholar
  23. J. Blasiak, J. Szaflik, and J. P. Szaflik, “Implications of altered iron homeostasis for age-related macular degeneration,” Frontiers in Bioscience, vol. 16, no. 4, pp. 1551–1559, 2011. View at Publisher · View at Google Scholar · View at Scopus
  24. D. Wysokinski, K. Danisz, J. Blasiak et al., “An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration,” Experimental Eye Research, vol. 106, pp. 14–23, 2013. View at Publisher · View at Google Scholar
  25. E. Bardou-Jacquet, S. Cunat, M. P. Beaumont-Epinette et al., “Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations,” British Journal of Haematology, vol. 162, no. 2, pp. 278–281, 2013. View at Publisher · View at Google Scholar
  26. R. D. Delima, A. C. Chua, J. E. Tirnitz-Parker et al., “Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in mice,” Hepatology, vol. 56, no. 2, pp. 585–593, 2012. View at Publisher · View at Google Scholar
  27. A. Goren, O. Ram, M. Amit et al., “Comparative analysis identifies exonic splicing regulatory sequences—the complex definition of enhancers and silencers,” Molecular Cell, vol. 22, no. 6, pp. 769–781, 2006. View at Publisher · View at Google Scholar · View at Scopus
  28. P. H. Lee and H. Shatkay, “An integrative scoring system for ranking SNPs by their potential deleterious effects,” Bioinformatics, vol. 25, no. 8, pp. 1048–1055, 2009. View at Publisher · View at Google Scholar · View at Scopus
  29. H. Kawabata, R. E. Fleming, D. Gui et al., “Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis,” Blood, vol. 105, no. 1, pp. 376–381, 2005. View at Publisher · View at Google Scholar · View at Scopus
  30. R. Karadag, Z. Arslanyilmaz, B. Aydin, and I. F. Hepsen, “Effects of body mass index on intraocular pressure and ocular pulse amplitude,” International Journal of Ophthalmology, vol. 5, no. 5, pp. 605–608, 2012. View at Publisher · View at Google Scholar
  31. C. J. Chiu, Y. P. Conley, M. B. Gorin et al., “Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration,” Investigative Ophthalmology & Visual Science, vol. 52, no. 12, pp. 9099–9107, 2011. View at Publisher · View at Google Scholar · View at Scopus