Our objective is to determine whether this mutation is involved in AMD by (1) understanding the functional consequences of this genomic variation on expression of COL8A1 and / or its neighbor genes, and (2) investigating photoreceptors and RPE cell survival, retinal and
choroidal angiogenesis, structure integrity of the choroid / Bruch's membrane, and the quality of the vision, in organisms with the COL8A1 mutation.
Specifically, the team hypothesizes that microRNA miR - 24 is a key regulator of actin cytoskeleton dynamics (i.e. the inner structural support of a cell); therefore, it plays a critical role in regulating multiple disease processes, including the
angiogenesis (blood vessel growth), inflammation, and fibrosis (thickening and scarring of tissue) associated with
choroidal neovascularization (CNV) in wet AMD.