Featured Research

from universities, journals, and other organizations

Genetic Sleuth Solves Glaucoma Mystery

Date:
March 26, 2009
Source:
University of Alberta Faculty of Medicine & Dentistry
Summary:
A medical geneticist has cracked the case of WDR36, a gene linked to glaucoma.

Dr. Michael Walter is one good gumshoe. The University of Alberta medical geneticist has cracked the case of WDR36, a gene linked to glaucoma.

Glaucoma is a leading cause of blindness in which cells in the optic nerve die, preventing the brain from understanding what patients see. Scientists have long suspected a link between WDR36 and glaucoma, but have been unable to figure out what the gene does and why some people with variations of the gene get glaucoma while others don't.

Walter unravels this mystery in an article, published in the April 1, 2009 print edition of the journal, Human Molecular Genetics, based in Oxford, England.

Walter and his team investigated a yeast gene that is extremely similar to WDR36 but much easier to experiment with. They introduced the suspected WDR36 variations into the yeast gene and tested its ability to function, and discovered that WDR36 wasn't working alone. The gene variations only affected the yeast when there were simultaneous changes to another gene, called STI1. Walter thinks that STI1 is only one of many other genes in which mutations must take place in order for WDR36 to cause glaucoma.

"Our results suggest that glaucoma is polygenetic, which means there have to be changes in several different genes in order for WDR36 to cause the disease," says Walter, a professor and chair of the Department of Medical Genetics in the Faculty of Medicine & Dentistry.

This explains why only some people who have WDR36 gene variations get glaucoma. This may also lead to further research to uncover the other genetic accomplices. "Only 10 per cent of glaucoma cases are caused by known genes, so the genes involved in this polygenetic interaction may help to explain the other 90 per cent," says Walter, who is also a professor in the Department of Ophthalmology.

In addition, Walter uncovered what WDR36 does in normal function. The gene helps make ribosomes, specialized molecules that make the proteins necessary to keep the cell functioning. Walter suspects that changes to WDR36 will affect ribosome production, and in turn affect the cell's ability to function.

But this mutation alone isn't enough to cause glaucoma. Changes also have to happen to the gene's partner in crime, the STI1 gene, which normally packages the proteins produced by WDR36's ribosomes. Walter says these findings explain the mechanics of glaucoma, how changes in these two genes lead to the illness.

"Glaucoma happens when WDR36 isn't producing ribosomes properly and STI1 isn't packaging those proteins properly – you need at least these two mutations to cause the disease."

Walter says this DNA detective work may have a tangible impact on preventing and treating glaucoma. "Glaucoma is one of the few blinding eye diseases that we can actually treat. But right now we're only treating the symptoms, not the disease."

"If we can understand who gets glaucoma, then we're in a much better place to prevent it, and if we can understand why they get glaucoma, then we have some important clues to use in developing second-generation medications that treat the disease itself."


Story Source:

The above story is based on materials provided by University of Alberta Faculty of Medicine & Dentistry. Note: Materials may be edited for content and length.


Cite This Page:

University of Alberta Faculty of Medicine & Dentistry. "Genetic Sleuth Solves Glaucoma Mystery." ScienceDaily. ScienceDaily, 26 March 2009. <www.sciencedaily.com/releases/2009/03/090320092109.htm>.
University of Alberta Faculty of Medicine & Dentistry. (2009, March 26). Genetic Sleuth Solves Glaucoma Mystery. ScienceDaily. Retrieved October 1, 2014 from www.sciencedaily.com/releases/2009/03/090320092109.htm
University of Alberta Faculty of Medicine & Dentistry. "Genetic Sleuth Solves Glaucoma Mystery." ScienceDaily. www.sciencedaily.com/releases/2009/03/090320092109.htm (accessed October 1, 2014).

Share This



More Health & Medicine News

Wednesday, October 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Some Positive Ebola News: Outbreak 'Contained' In Nigeria

Some Positive Ebola News: Outbreak 'Contained' In Nigeria

Newsy (Sep. 30, 2014) The CDC says a new case of Ebola has not been reported in Nigeria for more than 21 days, leading to hopes the outbreak might be nearing its end. Video provided by Newsy
Powered by NewsLook.com
UN Ebola Mission Head: Immediate Action Is Crucial

UN Ebola Mission Head: Immediate Action Is Crucial

AFP (Sep. 30, 2014) The newly appointed head of the United Nations Mission for Ebola Emergency Response (UNMEER), Anthony Banbury, outlines operations to tackle the virus. Duration: 00:39 Video provided by AFP
Powered by NewsLook.com
CDC Confirms First Case of Ebola in US

CDC Confirms First Case of Ebola in US

AP (Sep. 30, 2014) The CDC has confirmed the first diagnosed case of Ebola in the United States. The patient is being treated at a Dallas hospital after traveling earlier this month from Liberia. (Sept. 30) Video provided by AP
Powered by NewsLook.com
New Breast Cancer Drug Extends Lives In Clinical Trial

New Breast Cancer Drug Extends Lives In Clinical Trial

Newsy (Sep. 30, 2014) In a clinical trial, breast cancer patients lived an average of 15 months longer when they received new drug Perjeta along with Herceptin. 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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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