Elucidating the Role of HTRA1 in Developing AMD: Gregory S. Hageman, PhD; Brandi L. Williams, PhD

Directors from the Moran Eye Center discussed their research on the genetics of age-related macular degeneration.

“Since the chromosome 10 locus was discovered back in 2006, there's been a lot of argument in the field about whether it’s the ARMS2 or HTRA1 gene without a lot of robust science to support those arguments either way. In truth... it's both genes. ARMS2 is a regulatory site and HTRA1 is the business end of the protein expressed.”

The roles of the HTRA1 and ARMS2 genes, found on chromosome 10, in developing age-related macular degeneration (AMD) have been topics of discussion for the past few years. Researchers from the Moran Eye Center have conducted research that elucidates the role of these genes, which in some ways are contrary to previous thought.

GeneTherapyLive spoke with Brandi. L Williams, PhD, research director, and Gregory S. Hageman, PhD, executive director, Steele Center for Translational Medicine, both from the John A. Moran Eye Center, to learn more about the mechanism of AMD and previous discussion in the field that had assigned a different role to HTRA1.

Williams and Hageman discussed the importance of rigorous research and reliable resources such as the Moran Center’s eye donor repository. Williams also touched on the data that helped them discover HTRA1’s protective effect in developing AMD.

Williams BL, Seager NA, Gardiner JD, et al. Chromosome 10q26–driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium. PNAS. 2021;118(30) e2103617118. doi:10.1073/pnas.2103617118
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