Characterization of 10q26 AMD Protein

This study will examine a previously uncharacterized protein from a region of the genome believed to be linked to AMD

Age-related macular degeneration (AMD) is the most common disease leading to blindness in the United States. It is responsible for about half of all registered cases of blindness. Because our elderly population is growing, this will only become a bigger problem in the future. Furthermore, there are not, as yet, any really good treatments available, and early diagnosis is not yet possible. A region on chromosome 10 has been shown to be the most significant portion of our genome associated with AMD. However, the exact protein associated with AMD has not yet been identified. The preponderance of evidence, however, points to one of two proteins, LOC387715 and HtrA1. We hypothesize that the AMD gene on chromosome 10 is one of these two proteins. However, it is not possible to use genetic or statistical techniques to determine which protein is more likely to be associated with AMD. We will use human donor eyes to determine where these proteins are located and to determine which tissues in the eye express these proteins. We will also extract these proteins from human retinal tissue and cells to study their size and quantity. By looking at where these proteins are expressed and located inside the back of the eye, where AMD occurs, we hope to obtain evidence that will determine which protein is associated with AMD. This will help us in the future to develop assays to determine which individuals are most likely to get AMD and to develop treatments that will better alleviate this devastating disorder.