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In retinal disease, sight may depend on second sites
Date:5/12/2009

ent and from their parents and looked for common changes in the RPGRIP1L gene, which already was known to be defective in some but not all ciliary diseases. Although the frequency of any given change in DNA sequence was rare, several changes appeared only in patients with ciliary disease and not in healthy people, while some changes appeared more frequently in patients than in healthy people. One particular change in the RPGRIP1L gene, called A229T, was seen frequently in DNA from patients who had lost some vision but was absent in DNA from patients who had not lost vision.

As individual changes in single genes are difficult to study in people, the team turned to fish to learn how the A229T change in the RPGRIP1L gene affects cells. Like humans, fish also have a gene very similar to RPGRIP1L. In addition, fish are transparent in their early stages of development, which makes it easier to see how individual changes in genes can affect cellular function, structure or development. When the researchers reduced the amount of RPGRIP1L in fish, the animals developed short and stunted body structures and abnormal tails. When normal RPGRIP1L was added back into these same fish, the fish developed more normal body lengths and tails. However, when RPGRIP1L with the A229T change was added back to the fish, they remained short and stunted. So the researchers concluded that the A229T change must prevent RPGRIP1L from working properly.

The team then investigated why the A229T change in RPGRIP1L might lead to retinal degeneration and blindness in people. To do this, they looked for other proteins that interact with the RPGRIP1L protein by fishing the protein out of eye cells and examining what was stuck to it. They found one protein that stuck to RPGRIP1L but did not stick to RPGRIP1L with the A229T change. This protein interaction must be important for retinal function, they concluded, and loss of this interaction may explain how the A229T change in the RPGRIP1L
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Contact: Audrey Huang
audrey@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
Source:Eurekalert

Page: 1 2 3

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