Medics at the RUB have found the cause of hereditary, progressive 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. Jörg T. Epplen have demonstrated this using a mouse model. 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.”
Ccdc66 null mutation causes retinal degeneration and dysfunction. Gerding WM, Schreiber S, Schulte-Middelmann T, de Castro Marques A, Atorf J, Akkad DA, Dekomien G, Kremers J, Dermietzel R, Gal A, Rülicke T, Ibrahim S, Epplen JT, Petrasch-Parwez E. Hum. Mol. Genet. (2011) first published online June 16, 2011 doi:10.1093/hmg/ddr282
Prof. Dr. Jörg T. Epplen, Human Genetics, Medical Faculty of the RUB, tel. 0234/32-23839, e-mail: email@example.com
Editor: Jens Wylkop
Dr. Josef König | idw
Study suggests possible new target for treating and preventing Alzheimer's
02.12.2016 | Oregon Health & Science University
The first analysis of Ewing's sarcoma methyloma opens doors to new treatments
01.12.2016 | IDIBELL-Bellvitge Biomedical Research Institute
Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
05.12.2016 | Power and Electrical Engineering
05.12.2016 | Materials Sciences
05.12.2016 | Power and Electrical Engineering