Navigation Links
Cause of hereditary blindness discovered
Date:6/22/2011

Initially the occurrence of progressive retinal degeneration - progressive retinal atrophy, in man 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 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 Rlicke (Vienna) and Prof. Dr. Saleh Ibrahim (Lbeck), 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."


'/>"/>

Contact: Professor Dr. Jrg Epplen
joerg.t.epplen@rub.de
49-023-432-23839
Ruhr-University Bochum
Source:Eurekalert

Related medicine news :

1. Obstructive Sleep Apnea in Kids May Have Genetic Cause
2. UCLA study reveals how genes interact with their environment to cause disease
3. Virus Unlikely to Cause Chronic Fatigue Syndrome
4. RSA Innovator NetClarity Solves Networking Problems Caused by HP and Cisco Divorce
5. Popular nanoparticle causes toxicity in fish, study shows
6. Genetic cause discovered for rare bleeding disorder
7. Contact Dermatitis Can Be Irritating, Especially When the Cause is a Mystery
8. Acupuncture may relieve joint pain caused by some breast cancer treatments
9. Exposure to BPA may cause permanent fertility defects, Yale researchers find
10. Herr Foods Inc. Recalls ‘Herr's Cracked Pepper and Sea Salt Flavored' Kettle Style Potato Chips Because of Possible Health Risk
11. Scientists identify microRNA as possible cause of chemotherapy resistance
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/26/2017)... ... May 26, 2017 , ... Somnoware, a ... portable sleep monitor with its Somnoware Sleep Device Interface (SDI). Somnoware SDI is ... device operations. With this platform, initializing devices and importing studies are just one-click ...
(Date:5/26/2017)... (PRWEB) , ... May 26, 2017 , ... On May ... (AHCA), which narrowly passed the U.S. House on May 4, would result in 23 ... expected under continued implementation of the 2010 Patient Protection and Affordable Care Act (ACA). ...
(Date:5/26/2017)... ... May 26, 2017 , ... Rob Lowe acts as host and helps educate ... is on hiking in American. Viewers can reconnect with America as it explores some ... , Many consumers have looked for an inventive new place for a family vacation, ...
(Date:5/26/2017)... Centennial, Colorado (PRWEB) , ... May 26, 2017 ... ... Exchange will be this year’s recipient of proceeds from its 14th Annual Clays ... Club, 46700 E. County Road 30, Bennett, Colorado. , As part of ...
(Date:5/24/2017)... ... May 24, 2017 , ... Last ... Mary Ellen, hospital employees, and town officials to celebrate the grand opening of ... developed by Rendina as part of its ongoing relationship with RWJBarnabas Health, New ...
Breaking Medicine News(10 mins):
(Date:5/8/2017)... YORK , May 8, 2017 ... the transition from fee for service reimbursement. Black Book ... 2017. 1.       The Market for MIPS ... 77% of physician practices with 3 or more ... Technology Solutions by Q4. "Given the magnitude of the ...
(Date:5/6/2017)... 5, 2017  Hill-Rom Holdings, Inc. (NYSE: HRC), has ... square feet to its Welch Allyn campus. ... to bring more than 100 new jobs to ... has maintained a significant presence for more than 100 ... positions, a large portion of which will be R&D ...
(Date:5/4/2017)... SAN DIEGO , May 4, 2017  The ... Clinical and Scientific Meeting— OBP Medical , a leading ... announced the launch of a new extra-small size and ... ER-SPEC vaginal specula. Already available in small, ... sizes makes OBP Medical,s line of single-use lighted specula ...
Breaking Medicine Technology: