Biological cause of one form of blindness identified by SLU researchers
Saint Louis University researchers have discovered the cause of one form of retinitis pigmentosa, a type of genetically inherited blindness. The research, which will be published Tuesday in the April 27 Proceedings of the National Academy of Sciences (PNAS), opens the door to the development of new treatments.
The research was based on genetic information provided by several blind members of a South African family. The laboratory of William Sly, M.D., chair of the department of biochemistry at Saint Louis University School of Medicine, collaborated on the research with scientists from UCT/Groote Schuur Hospital in South Africa. Further evidence in support of their research was provided by Dr. Kang Zhang at the University of Utah.
The research began when a "gene hunt" involving five large families led the South African scientists to discover a genetic mutation not previously known to be involved in retinitis pigmentosa. The discovery was unusual because this gene was expressed only in the kidney and in micro-capillaries such as the capillaries beneath the eye, and not in the retina itself; typically, genes involved in retinal diseases are expressed only in the retina.
After making the discovery, the South African researchers contacted Dr. Slys lab, which had done extensive independent work with the gene. Dr. Slys group set out to discover how the mutation could cause blindness.
They discovered it interferes with a process necessary for healthy cell development. The mutation causes a secretory protein in the capillaries beneath the retina to improperly "fold," a process necessary for healthy cell development. When the proteins fail to fold quickly enough, a response is triggered that can cause the cells to die.
"These capillaries nourish the retina," Dr. Sly said. "When they die, the retina dies along with them."
Understanding this mechanism should lead directly to the development of new treatments, he said. "If we can find a way to make the proteins fold properly, we should be able to treat the disease. This is very promising."
Other Saint Louis University researchers participating in the study included Drs. Giuseppe Bonapace, Abdul Waheed and Gul N. Shah.
Matt Shaw | EurekAlert!
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.
For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...
What is the mass of a proton? Scientists from Germany and Japan successfully did an important step towards the most exact knowledge of this fundamental constant. By means of precision measurements on a single proton, they could improve the precision by a factor of three and also correct the existing value.
To determine the mass of a single proton still more accurate – a group of physicists led by Klaus Blaum and Sven Sturm of the Max Planck Institute for Nuclear...
A bacterial enzyme enables reactions that open up alternatives to key industrial chemical processes
The research team of Prof. Dr. Oliver Einsle at the University of Freiburg's Institute of Biochemistry has long been exploring the functioning of nitrogenase....
Larsen C Ice Shelf rift finally breaks through
A one trillion tonne iceberg - one of the biggest ever recorded -- has calved away from the Larsen C Ice Shelf in Antarctica, after a rift in the ice,...
Physics supports biology: Researchers from PTB have developed a model system to investigate friction phenomena with atomic precision
Friction: what you want from car brakes, otherwise rather a nuisance. In any case, it is useful to know as precisely as possible how friction phenomena arise –...