Featured Research

from universities, journals, and other organizations

Researchers probe genetic link to blindness

Date:
September 11, 2011
Source:
University of Leeds
Summary:
Researchers have used next-generation DNA sequencing techniques to discover what causes a rare form of inherited eye disorders, including cataracts and glaucoma, in young children.

University of Leeds researchers have used next-generation DNA sequencing techniques to discover what causes a rare form of inherited eye disorders, including cataracts and glaucoma, in young children.

The findings should make it easier to identify families with this condition who are at risk of conceiving children with severely impaired vision, so they can receive appropriate genetic counselling. The work, co-led with colleagues at Flinders University in Adelaide, Australia, may also lead to new treatments for adults and children with this form of inherited blindness.

The researchers looked at DNA from three unrelated families. All families had members with a history of poor vision from birth, linked to problems with the eye's lens and cornea. Together, the lens and cornea make up the clear 'window' at the front of the eye. But if these structures do not develop correctly then this 'window' can become cloudy, making it difficult to see clearly. If the problems are not treated, they can get worse leading to glaucoma and eventually blindness.

Dr Manir Ali and colleagues discovered that all of the various family members with impaired vision had defects in an antioxidant protein known as peroxidasin that makes up part of the lens and cornea. They concluded that these defects are responsible for causing cataracts and glaucoma in children with this rare form of inherited eye disorders.

"We know that in healthy eyes, peroxidasin acts as a first line of defence against the damage that ultraviolet radiation and sunlight does to our skin. It may also help protect against cataracts in older people," Dr Ali said. "Our findings imply that this same protein is essential for the normal development of the lens and surrounding structures at the front of the eye."

Full details of the study are published in the latest issue of the American Journal of Human Genetics.

The discovery was made using next generation DNA sequencing, a new way of reading genes quickly and spotting errors that cause inherited diseases. Dr Ali and colleague now plan to use the same approach to screen all the eyes genes at once, so that all patients with inherited blindness can find out exactly what is causing their illness and can be given the appropriate treatment.

"This DNA sequencing technology looks set to revolutionise the medical world, giving patients and their doctors more information than ever before about their genetic make-up and how it can affect their health and response to treatment," Dr Ali said.

University of Leeds researchers received funding from the Wellcome Trust, the Sir Jules Thorn Charitable Trust, and Yorkshire Eye Research. The work was also supported by The Ophthalmic Research Institute of Australia, and The Eye Foundation and Sight for All.


Story Source:

The above story is based on materials provided by University of Leeds. Note: Materials may be edited for content and length.


Journal Reference:

  1. Kamron Khan, Adam Rudkin, David A. Parry, Kathryn P. Burdon, Martin McKibbin, Clare V. Logan, Zakia I.A. Abdelhamed, James S. Muecke, Narcis Fernandez-Fuentes, Kate J. Laurie, Mike Shires, Rhys Fogarty, Ian M. Carr, James A. Poulter, Joanne E. Morgan, Moin D. Mohamed, Hussain Jafri, Yasmin Raashid, Ngy Meng, Horm Piseth, Carmel Toomes, Robert J. Casson, Graham R. Taylor, Michael Hammerton, Eamonn Sheridan, Colin A. Johnson, Chris F. Inglehearn, Jamie E. Craig, Manir Ali. Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma. American Journal of Human Genetics, 2011; 89 (3): 464-473 DOI: 10.1016/j.ajhg.2011.08.005

Cite This Page:

University of Leeds. "Researchers probe genetic link to blindness." ScienceDaily. ScienceDaily, 11 September 2011. <www.sciencedaily.com/releases/2011/09/110908124133.htm>.
University of Leeds. (2011, September 11). Researchers probe genetic link to blindness. ScienceDaily. Retrieved September 2, 2014 from www.sciencedaily.com/releases/2011/09/110908124133.htm
University of Leeds. "Researchers probe genetic link to blindness." ScienceDaily. www.sciencedaily.com/releases/2011/09/110908124133.htm (accessed September 2, 2014).

Share This




More Health & Medicine News

Tuesday, September 2, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Get on Your Bike! London Cycling Popularity Soars Despite Danger

Get on Your Bike! London Cycling Popularity Soars Despite Danger

AFP (Sep. 1, 2014) Wedged between buses, lorries and cars, cycling in London isn't for the faint hearted. Nevertheless the number of people choosing to bike in the British capital has doubled over the past 15 years. Duration: 02:27 Video provided by AFP
Powered by NewsLook.com
Can You Train Your Brain To Eat Healthy?

Can You Train Your Brain To Eat Healthy?

Newsy (Sep. 1, 2014) New research says if you condition yourself to eat healthy foods, eventually you'll crave them instead of junk food. Video provided by Newsy
Powered by NewsLook.com
We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins