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 September 18, 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 September 18, 2014).

Share This



More Health & Medicine News

Thursday, September 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Artificial Sweetener Could Promote Diabetes

Artificial Sweetener Could Promote Diabetes

Newsy (Sep. 17, 2014) — Doctors once thought artificial sweeteners lacked the health risks of sugar, but a new study says they can impact blood sugar levels the same way. Video provided by Newsy
Powered by NewsLook.com
Ebola Vaccine Trial Gets Underway at Oxford University

Ebola Vaccine Trial Gets Underway at Oxford University

AFP (Sep. 17, 2014) — A healthy British volunteer is to become the first person to receive a new vaccine for the Ebola virus after US President Barack Obama called for action against the epidemic and warned it was "spiralling out of control." Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Obesity Rates Steady Even As Americans' Waistlines Expand

Obesity Rates Steady Even As Americans' Waistlines Expand

Newsy (Sep. 17, 2014) — Researchers are puzzled as to why obesity rates remain relatively stable as average waistlines continue to expand. Video provided by Newsy
Powered by NewsLook.com
President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) — President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
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