Team finds mutation involved in macular degeneration

Nov 26, 2010
Team finds mutation involved in macular degeneration
Retinal photograph of right eye, showing mottled changes in the macular region. Credit: Wellcome Images.

Researchers from the Wellcome Trust Centre for Cell-Matrix Research in Manchester have revealed more about how a particular genetic change significantly raises the risk of developing age-related macular degeneration.

This disease, the major cause of blindness in the Western world, is preceded by the build-up of small yellow particles (drusen) in the . This leads to the death of photoreceptor cells and thus loss of central vision. Professor Tony Day, Dr Simon Clark and Professor Paul Bishop found that the Y402H polymorphism of the CFH gene altered the function of complement factor H, a key that helps prevent damage to the body.

This coding change reduces the protein’s ability to bind to the part of the retina where drusen accumulate, suggesting a potential mechanism through which age-related develops. The finding could help us develop new therapeutic strategies for treating or preventing the condition.

Explore further: AncientBiotics - a medieval remedy for modern day superbugs?

More information: Clark SJ et al. Impaired binding of the AMD-associatecomplement factor H 402H allotype to Bruch’s membrane in human retina. J Biol Chem 2010;285(39):30192-202.

Related Stories

New cause of blindness discovered by scientists

Sep 21, 2010

University of Manchester scientists have discovered a new cause of age-related macular degeneration (AMD), a condition that affects more than 50 million people worldwide and results in blindness.

Why Popeye only has eyes for spinach

Sep 25, 2006

Eating spinach could protect your eyes from the leading cause of blindness in western society, say experts at The University of Manchester.

Recommended for you

'Google Maps' for the body: A biomedical revolution

3 hours ago

A world-first UNSW collaboration that uses previously top-secret technology to zoom through the human body down to the level of a single cell could be a game-changer for medicine, an international research ...

New compounds could offer therapy for multitude of diseases

4 hours ago

An international team of more than 18 research groups has demonstrated that the compounds they developed can safely prevent harmful protein aggregation in preliminary tests using animals. The findings raise hope that a new ...

Novel nanoparticle therapy promotes wound healing

Mar 26, 2015

An experimental therapy developed by researchers at Albert Einstein College of Medicine of Yeshiva University cut in half the time it takes to heal wounds compared to no treatment at all. Details of the therapy, ...

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.