Age related macular degeneration (AMD) is a severe health problem in the developed world. It has been shown that a common Tyrosine to Histidine variation at position 402 of the Factor H gene increases significantly the risk for the disease. We are interested to characterize the relevance of this Tyr402His variation of the Factor H protein for the disease. In addition we have shown that the FHL-1 protein which also has the critical position 402 is expressed in the eye and thus forms an additional risk factor for AMD. Apparently the FHR-1 and FHR-3 proteins confer a protective effect in AMD as deletion of the CFHR-1/CFHR-3 gene cluster conferes a protective scenario. Interestingly deletion of CFHR-1/CFHR-3 shows a protective for AMD, the same deletion increase the riks for the kidney disease in HUS.

Cooperation

Dr. Jürgen Sühnel, Fritz Lipmann Institute, Jena
Dr. Andreas Weinberger, Ophtalmic Clinical, University Aachen
Prof. Bernhard Weber, Inst. for Human Genetik, University Regensburg
Dr. Claudia Keilhauer, University Clinical Würzburg
Prof. U. Schlötzer-Schrehardt, Ophtalmic Clinical, Erlangen

Selected References

Skerka C, Lauer N, Weinberger AWA, Keilhauer CN, Sühnel J, Smith R, Schlötzer–Schrehardt U, Fritsche L, Heinen S, Hartmann A, Weber BHF, Zipfel PF (2007). Defective Complement Control of Factor H (Y402H) and FHL-1 in Age Related Macular Degeneration. Mol Immunol, in press

Reviews

Zipfel PF, Heinen S, Józsi M, Skerka C (2006). Complement and diseases: defective alternative pathway control as a cause for kidney – and eye diseases. Mol Immunol 43, 97-106.

Funding