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Variation in immune response gene causes age-related macular degeneration when triggered

NEW YORK, NY, April 30, 2005 Age-related macular degeneration, the leading cause of blindness in the elderly, occurs when a common inherited gene variation is triggered, possibly by an infection, according to a new study led by researchers at Columbia University Medical Center and the University of Iowa, with an international research team.

The gene, known as Factor H, encodes a protein that regulates immune defense against infection caused by bacteria and viruses. People who have an inherited variation in this gene are less able to control inflammation caused by these infections, which may spark age-related macular degeneration (AMD) later in life, the study finds.

Published in this week's Proceedings of the National Academy of Sciences, the results suggest that targeting the molecules involved in immune system response may provide powerful new therapies for treating and preventing AMD.

"We now understand the genetic variation that is behind age-related macular degeneration and are beginning to target the trigger that sets the process in motion," said Rando Allikmets, Ph.D., Acquavella Associate Professor in the department of ophthalmology and the department of pathology & cell biology at Columbia University College of Physicians and Surgeons. "By targeting the molecules involved in inflammation and its regulation we believe we can begin to develop therapies and diagnostic tools that could help countless people keep their sight."

Potential therapies could involve delivering healthy Factor H directly to the eye to short-circuit the disease process; extracting stem cells from the eye so they could be reengineered and re-implanted; or partial transplantation of the liver - the body's main source for Factor H.

Other research has recently established the link between the Factor H gene and AMD by scanning the human genome for variations in gene sequences, but this new research is the first to examine the roots of AMD from a biol
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Contact: Craig LeMoult
cel2113@columbia.edu
212-305-0820
Columbia University Medical Center
30-Apr-2005


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