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N. Leveziel, J.–C. Jeanny, G. Hetet, E. Souied, G. Coscas, G. Soubrane, B. Grandchamp, Y. Courtois; Polymorphisms of genes implicated in iron metabolism and Age–Related Macular Degeneration (ARMD). . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1834.
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Purpose:Iron depletion or overload can induce photoreceptor degeneration as in chronic use of iron chelators or in the presence of intraocular iron foreign body. Some neurodegenerative diseases (Parkinson, Alzheimer and Huntington’s ) harbor accumulation of iron with induced local reactive oxygen species accumulation within the lesions. A few studies emphasize the association between Parkinson disease and polymorphism of genes implicated in iron metabolism. In a case/control study, we investigated polymorphisms of proteins implicated in iron metabolism, in a group of patients with age related macular degeneration (ARMD) compared to a control group. Material and method: We used genomic DNA from 80 patients affecting by the wet form ARMD and from 240 healthy people. Control cases and ARMD cases were matched with respect to age and gender. We performed a polymorphism analysis using molecular beacons for transferrin (Tf G258S), ceruloplasmin (Ceru G650G and Ceru H997H) and ferroportin (Ferro exon 1), three proteins respectively implicated in transport, oxydation and absorption of iron. Results: Of the different genes tested, polymorphisms of genes involved in iron metabolism were not more prevalent in patients with ARMD as compared to the group of control patients (without ARMD). Conclusion: These results may be interpreted to indicate that specific polymorphism of genes implicated in iron metabolism are not involved in the expression of wet ARMD disease expression. However, additional potential gene polymorphism not examined in this study may play a role.
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