Featured Research

from universities, journals, and other organizations

Scientists unravel the cause of rare genetic disease: Goldman-Favre Syndrome explained

Date:
September 7, 2011
Source:
Federation of American Societies for Experimental Biology
Summary:
New research will help ophthalmologists and scientists understand a genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome. Scientists found that the expression of genes responsible for healthy renewal of rods and cones in the retina was reduced and that this problem originates in the photoreceptors instead of the retinal pigment epithelial layer as once thought.

A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome. In the report, scientists found that the expression of genes responsible for the healthy renewal of rods and cones in the retina was reduced and that this problem originates in the photoreceptors themselves rather than in the adjacent retinal pigment epithelial layer as once thought.

"This research could help identify therapeutic agents that would prevent, ameliorate or possibly cure these blinding diseases related to defective renewal of retinal cells," said Krzysztof Palczewski, Ph.D., a senior scientist involved in the research and an editorial board member of The FASEB Journal from the Department of Pharmacology in the School of Medicine at Case Western Reserve University, in Cleveland, Ohio. "It is possible that during aging, this process is slowed and such intervention could be important for determining diseases such as age-related macular degeneration."

To make this discovery, researchers studied both human ESCS patients and an ESCS mouse model. They found that phagocytosis, a process that allows for the normal and continual renewal of rods and cones in the retina, was defective. Using RNA-sequencing to identify differences in complete transcriptomes, and cell culture techniques, scientists demonstrated that the phagocytotic defect was due to the ESCS photoreceptors themselves, rather than the adjacent retinal pigment epithelium layer that also is involved in photoreceptor phagocytosis.

"Learning what goes wrong in rare diseases like Enhanced S-Cone Syndrome allows us to understand how vision works at the molecular level," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "This study provides valuable insight into how the eye renews its photoreceptor cells. Knowing that photoreceptor cells affect their own renewal will surely have an impact on other, more common, forms of retinal degeneration."

According to the U.S. National Institutes of Health Office of Rare Diseases, Enhanced S-Cone Syndrome is an inherited eye disease that affects the retina. Within the retina are "red," "blue," and "green" cones allowing people to see colors properly; and rods which allows us to see in dim light. People with Enhanced S-Cone Syndrome are born with an overabundance of blue cones, reduced numbers of red and green cones, and few, if any, functional rods. This leads to an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration.


Story Source:

The above story is based on materials provided by Federation of American Societies for Experimental Biology. Note: Materials may be edited for content and length.


Journal Reference:

  1. D. Mustafi, B. M. Kevany, C. Genoud, K. Okano, A. V. Cideciyan, A. Sumaroka, A. J. Roman, S. G. Jacobson, A. Engel, M. D. Adams, K. Palczewski. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. The FASEB Journal, 2011; 25 (9): 3157 DOI: 10.1096/fj.11-186767

Cite This Page:

Federation of American Societies for Experimental Biology. "Scientists unravel the cause of rare genetic disease: Goldman-Favre Syndrome explained." ScienceDaily. ScienceDaily, 7 September 2011. <www.sciencedaily.com/releases/2011/08/110831115942.htm>.
Federation of American Societies for Experimental Biology. (2011, September 7). Scientists unravel the cause of rare genetic disease: Goldman-Favre Syndrome explained. ScienceDaily. Retrieved September 20, 2014 from www.sciencedaily.com/releases/2011/08/110831115942.htm
Federation of American Societies for Experimental Biology. "Scientists unravel the cause of rare genetic disease: Goldman-Favre Syndrome explained." ScienceDaily. www.sciencedaily.com/releases/2011/08/110831115942.htm (accessed September 20, 2014).

Share This



More Health & Medicine News

Saturday, September 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com
Jury Delivers Verdict in Salmonella Trial

Jury Delivers Verdict in Salmonella Trial

AP (Sep. 19, 2014) A federal jury has convicted three people in connection with an outbreak of salmonella poisoning five years ago that sickened hundreds of people and was linked to a number of deaths. (Sept. 19) 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