Cause of hereditary blindness discovered
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 Rülicke (Vienna) and Prof. Dr. Saleh Ibrahim (Lübeck), 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".
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."
Source: Ruhr-University Bochum
- Cause of a hereditary form of blindness discoveredfrom Science DailyWed, 22 Jun 2011, 6:30:23 EDT
Latest Science NewsletterGet the latest and most popular science news articles of the week in your Inbox! It's free!
Check out our next project, Biology.Net
From other science news sites
Popular science news articles
- Climate-exodus expected in the Middle East and North Africa
- New drug-delivery approach holds potential for treating obesity
- Indiana University researchers find Earth may be home to 1 trillion species
- Finding sheds light on what may kill neurons after stroke
- Adult brain prunes branched connections of new neurons
- Hunting wolves near Denali, Yellowstone cuts wolf sightings in half
- Unique fragment from Earth's formation returns after billions of years in cold storage
- Gene therapy shows long-term benefit for treating rare blindness
- One-third of autistic children likely to wander, disappear
- Children are diagnosed with autism at younger ages since push for universal screening