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: A new way to diagnose malaria, using magnetic fields

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.

add to favorites email to friend print save as pdf

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

Gamers helping in Ebola research

9 hours ago

Months before the recent Ebola outbreak erupted in Western Africa, killing more than a thousand people, scientists at the University of Washington's Institute for Protein Design were looking for a way to stop the deadly virus.

Carcinogenic role of a protein in liver decoded

11 hours ago

The human protein EGFR controls cell growth. It has mutated in case of many cancer cells or exists in excessive numbers. For this reason it serves as a point of attack for target-oriented therapies. A study ...

A new way to diagnose malaria, using magnetic fields

Aug 31, 2014

Over the past several decades, malaria diagnosis has changed very little. After taking a blood sample from a patient, a technician smears the blood across a glass slide, stains it with a special dye, and ...

User comments : 0