Featured Research

from universities, journals, and other organizations

Cause of a hereditary form of blindness discovered

Date:
June 22, 2011
Source:
Ruhr-Universitaet-Bochum
Summary:
Researchers in Germany have found the cause of a hereditary, progressive form of blindness: they have identified the previously unknown protein CCDC66, the loss of which initially leads to night blindness and in due course usually results in complete blindness.

Medics at Ruhr-Universitaet-Bochum in Germany have found the cause of a hereditary, progressive form of blindness: they have identified the previously unknown protein CCDC66, the loss of which initially leads to night blindness and in due course usually results in complete blindness.

The researchers from the Department of Human Genetics led by Prof. Dr. Jφrg T. Epplen have demonstrated this using a mouse model. Initially the occurrence of progressive retinal degeneration -- progressive retinal atrophy, in humans called retinitis pigmentosa -- had been identified in Schapendoes dogs. Retinitis pigmentosa is the most common hereditary disease which causes blindness in humans. The researchers report on their findings in the journal Human Molecular Genetics.

Genetic test developed

Based on the new findings, the researchers from Bochum have developed a genetic test for diagnosis in this breed of dogs that can also be used predictively in breeding. Schapendoes dogs are originally a Dutch breed of herding dog, which is now kept mainly in Holland, Germany, Northern Europe and North America. However, the research results are also potentially significant for people. The scientists are currently investigating whether mutations of the CCDC66 gene could also be responsible for some retinitis pigmentosa patients.

Mouse model: disease progression in months instead of years

"Since at the beginning of the work, the importance of the CCDC66 protein in the organism was completely unknown, in collaboration with Dr. Thomas Rόlicke (Vienna) and Prof. Dr. Saleh Ibrahim (Lόbeck), we developed a mouse model with a defect in the corresponding gene" explained Prof. Epplen. The aim was initially to obtain basic information about the consequences of the CCDC66 deficiency in order to draw conclusions on the physiological function of the protein. "Fortunately, the mice showed exactly the expected defect of slow progressive impaired vision," said Epplen. "Along with Dr. Elisabeth Petrasch-Parwez (RUB) and Prof. Dr. Jan Kremers (Erlangen), we were able to anatomically and functionally study the entire development of the visual defect in the mouse in just a few months, whereas the progress takes years in humans and dogs." In this interdisciplinary project, the researchers have precisely documented and characterised the progress of retinal degeneration. Epplen: "Interestingly, the CCDC66 protein is, for example, only localised in certain structures of the rods."

Studies continue

The insights gained from the studies of the working group can now be applied in order to better understand the processes that cause this inherited disorder. The mouse model will be studied further, as the researchers said: "with regard to malfunctions of the brain, but naturally, above all as a prerequisite for future therapeutic trials in retinitis pigmentosa."


Story Source:

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


Journal Reference:

  1. W. M. Gerding, S. Schreiber, T. Schulte-Middelmann, A. de Castro Marques, J. Atorf, D. A. Akkad, G. Dekomien, J. Kremers, R. Dermietzel, A. Gal, T. Rulicke, S. Ibrahim, J. T. Epplen, E. Petrasch-Parwez. Ccdc66 null mutation causes retinal degeneration and dysfunction. Human Molecular Genetics, 2011; DOI: 10.1093/hmg/ddr282

Cite This Page:

Ruhr-Universitaet-Bochum. "Cause of a hereditary form of blindness discovered." ScienceDaily. ScienceDaily, 22 June 2011. <www.sciencedaily.com/releases/2011/06/110622045133.htm>.
Ruhr-Universitaet-Bochum. (2011, June 22). Cause of a hereditary form of blindness discovered. ScienceDaily. Retrieved September 21, 2014 from www.sciencedaily.com/releases/2011/06/110622045133.htm
Ruhr-Universitaet-Bochum. "Cause of a hereditary form of blindness discovered." ScienceDaily. www.sciencedaily.com/releases/2011/06/110622045133.htm (accessed September 21, 2014).

Share This



More Health & Medicine News

Sunday, September 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) — Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com
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

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