Featured Research

from universities, journals, and other organizations

Biological Cause Of One Form Of Blindness Identified By SLU Researchers

Date:
April 29, 2004
Source:
Saint Louis University
Summary:
Saint Louis University researchers have discovered the cause of one form of retinitis pigmentosa, a type of genetically inherited blindness.

ST. LOUIS - Saint Louis University researchers have discovered the cause of one form of retinitis pigmentosa, a type of genetically inherited blindness. The research, which will be published Tuesday in the April 27 Proceedings of the National Academy of Sciences (PNAS), opens the door to the development of new treatments.

Related Articles


The research was based on genetic information provided by several blind members of a South African family. The laboratory of William Sly, M.D., chair of the department of biochemistry at Saint Louis University School of Medicine, collaborated on the research with scientists from UCT/Groote Schuur Hospital in South Africa. Further evidence in support of their research was provided by Dr. Kang Zhang at the University of Utah.

The research began when a "gene hunt" involving five large families led the South African scientists to discover a genetic mutation not previously known to be involved in retinitis pigmentosa. The discovery was unusual because this gene was expressed only in the kidney and in micro-capillaries such as the capillaries beneath the eye, and not in the retina itself; typically, genes involved in retinal diseases are expressed only in the retina.

After making the discovery, the South African researchers contacted Dr. Sly's lab, which had done extensive independent work with the gene. Dr. Sly's group set out to discover how the mutation could cause blindness.

They discovered it interferes with a process necessary for healthy cell development. The mutation causes a secretory protein in the capillaries beneath the retina to improperly "fold," a process necessary for healthy cell development. When the proteins fail to fold quickly enough, a response is triggered that can cause the cells to die.

"These capillaries nourish the retina," Dr. Sly said. "When they die, the retina dies along with them."

Understanding this mechanism should lead directly to the development of new treatments, he said. "If we can find a way to make the proteins fold properly, we should be able to treat the disease. This is very promising."

Other Saint Louis University researchers participating in the study included Drs. Giuseppe Bonapace, Abdul Waheed and Gul N. Shah.


Story Source:

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


Cite This Page:

Saint Louis University. "Biological Cause Of One Form Of Blindness Identified By SLU Researchers." ScienceDaily. ScienceDaily, 29 April 2004. <www.sciencedaily.com/releases/2004/04/040429052031.htm>.
Saint Louis University. (2004, April 29). Biological Cause Of One Form Of Blindness Identified By SLU Researchers. ScienceDaily. Retrieved November 28, 2014 from www.sciencedaily.com/releases/2004/04/040429052031.htm
Saint Louis University. "Biological Cause Of One Form Of Blindness Identified By SLU Researchers." ScienceDaily. www.sciencedaily.com/releases/2004/04/040429052031.htm (accessed November 28, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Experimental Ebola Vaccine Shows Promise In Human Trial

Experimental Ebola Vaccine Shows Promise In Human Trial

Newsy (Nov. 27, 2014) — A recent test of a prototype Ebola vaccine generated an immune response to the disease in subjects. Video provided by Newsy
Powered by NewsLook.com
Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) — Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
Today's Prostheses Are More Capable Than Ever

Today's Prostheses Are More Capable Than Ever

Newsy (Nov. 26, 2014) — Advances in prosthetics are making replacement body parts stronger and more lifelike than they’ve ever been. 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