Featured Research

from universities, journals, and other organizations

Gene behind glaucoma identified

Date:
May 31, 2011
Source:
Expertanswer
Summary:
It is a mutation in a gene that causes the eye disease glaucoma, according to new research.

It is a mutation in a gene that causes the eye disease glaucoma, according to collaborative research conducted by Swedish, Tunisian, and American researchers. The findings were recently published in the journal Nature Genetics.

The most common form of glaucoma, so-called open-angle glaucoma, is a disease that afflicts more than 16 million people in the world. The nerve fiber layer of the optic nerve slowly withers, leading to a deterioration of wide-angle vision and ultimately to serious vision impairment.

It was previously believed that glaucoma is caused by elevated pressure in the eye. But now Peter Söderkvist and Mounira Hmani-Aifa at the Faculty of Health Sciences, Linköping University, Sweden, in collaboration with Tunisian and American researchers, have managed to identify the pathogenic gene PRSS56, which is a serine protease. However, it remains unclear which protein(s) is the substrate for PRSS56.

The scientists studied Tunisian families who have been afflicted with both glaucoma and microphthalmia, diminished eyeballs, and in this work they managed to identify the gene that is mutated and causes the disease. The American research team participating in this collaboration identified an altered version of the gene in a mutagenesis screen in mice, selected for glaucoma.

The findings were achieved as part of a bilateral collaboration project between the Center for Biotechnology in Sfax, Tunisia and the Faculty of Health Sciences at Linköping University, a project that specifically targets research on families with genetic disorders. The project is funded by the Swedish Research Council and SIDA, the Swedish Development Cooperation Agency.


Story Source:

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


Journal Reference:

  1. K Saidas Nair, Mounira Hmani-Aifa, Zain Ali, Alison L Kearney, Salma Ben Salem, Danilo G Macalinao, Ioan M Cosma, Walid Bouassida, Bochra Hakim, Zeineb Benzina, Ileana Soto, Peter Söderkvist, Gareth R Howell, Richard S Smith, Hammadi Ayadi, Simon W M John. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. Nature Genetics, 2011; DOI: 10.1038/ng.813

Cite This Page:

Expertanswer. "Gene behind glaucoma identified." ScienceDaily. ScienceDaily, 31 May 2011. <www.sciencedaily.com/releases/2011/05/110531084754.htm>.
Expertanswer. (2011, May 31). Gene behind glaucoma identified. ScienceDaily. Retrieved April 19, 2014 from www.sciencedaily.com/releases/2011/05/110531084754.htm
Expertanswer. "Gene behind glaucoma identified." ScienceDaily. www.sciencedaily.com/releases/2011/05/110531084754.htm (accessed April 19, 2014).

Share This



More Health & Medicine News

Saturday, April 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) — In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Little Progress Made In Fighting Food Poisoning, CDC Says

Little Progress Made In Fighting Food Poisoning, CDC Says

Newsy (Apr. 18, 2014) — A new report shows rates of two foodborne infections increased in the U.S. in recent years, while salmonella actually dropped 9 percent. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) — The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) — President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
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