Molecular Biology of Retinal Degenerations
The 10q26 locus in AMD
Age-related Macular Degeneration (AMD) is loss of cone vision that sets in in later decades of life. Association studies have mapped the chromosomal region 10q26 that contributes to AMD cases. So far, the three genes PLEKHA1, AMS2 and Htra1 in this region could not be linked to AMD in a conclusive manner. We follow the localization of ARMS2 in the retina and determine its binding partners.
ARMS2 protein is a secreted protein that interacts with several proteins of the extracellular matrix, Among these proteins, an interaction between fibulin-6 and ARMS2 was found. As fibulin-6 is a cause for familial AMD, the results indicate that the extracellular matrix is an important site where AMD progresses and that ARMS2 is needed for proper matrix function.
Scientists in Ueffing Lab
- Elöd Körtvely
- Alan Wright, Chloe Stanton, Edinburgh
- Common mechanisms for separate maculopathies? Kortvely E, Ueffing M., Adv Exp Med Biol. 2012;723:61-6.
- Complement factor D in age-related macular degeneration., Stanton CM, Yates JR, den Hollander AI, Seddon JM, Swaroop A, Stambolian D, Fauser S, Hoyng C, Yu Y, Atsuhiro K, Branham K, Othman M, Chen W, Kortvely E, Chalmers K, Hayward C, Moore AT, Dhillon B, Ueffing M, Wright AF., Invest Ophthalmol Vis Sci. 2011 Nov 11;52(12):8828-34.,
- ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations.,Kortvely E, Hauck SM, Duetsch G, Gloeckner CJ, Kremmer E, Alge-Priglinger CS, Deeg CA, Ueffing M., Invest Ophthalmol Vis Sci. 2010 Jan;51(1):79-88