By injecting a therapeutic gene directly into the brain, researchers have treated a naturally occurring genetic disease in cats. This is the first genetic disease affecting the central nervous system to be successfully treated in an animal larger than mice and rats. If this approach can be successfully applied to humans, say the researchers, it might one day treat an entire class of diseases called lysosomal storage disorders, which cause severe, sometimes fatal, disabilities in about one in 5,000 births. The members of the research team from the University of Pennsylvania School of Veterinary Medicine, the Childrens Hospital of Philadelphia and the U.S. Naval Academy published their findings in this months issue of the Annals of Neurology.
The animals involved in the study are born with a genetic disorder directly analogous to alpha-mannosidosis or AMD, an inherited disease in humans that causes severe mental retardation and skeletal abnormalities. Cats with AMD do not live more than six months. Children born with the worst form of the disease rarely survive into their teens. "Through gene therapy, we replace a broken gene responsible for alpha-mannosidase with the correct, functioning copy, to dramatic results," said John H. Wolfe, a professor of pathology and medical genetics at the Penn School of Veterinary Medicine and a neurology researcher at Childrens Hospital. "The treated cats were markedly improved compared to diseased cats, with better balance and muscle control and fewer tremors."
Although the disease itself is rare, AMD is one of about 50 lysosomal storage diseases, a class of diseases that accounts for a significant portion of the instances of mental retardation in children. Other examples include Tay-Sachs disease, Hunter disease and Pompe disease. In a lysosomal storage disease, cellular debris accumulates within storage areas of cells called lysosomes. In the case of AMD, children are born with a faulty version of the gene for an enzyme called lysosomal alpha-mannosidase or LAMAN.
Greg Lester | EurekAlert!
Nanoparticle Exposure Can Awaken Dormant Viruses in the Lungs
16.01.2017 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
Cholera bacteria infect more effectively with a simple twist of shape
13.01.2017 | Princeton University
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
At TU Wien, an alternative for resource intensive formwork for the construction of concrete domes was developed. It is now used in a test dome for the Austrian Federal Railways Infrastructure (ÖBB Infrastruktur).
Concrete shells are efficient structures, but not very resource efficient. The formwork for the construction of concrete domes alone requires a high amount of...
Many pathogens use certain sugar compounds from their host to help conceal themselves against the immune system. Scientists at the University of Bonn have now, in cooperation with researchers at the University of York in the United Kingdom, analyzed the dynamics of a bacterial molecule that is involved in this process. They demonstrate that the protein grabs onto the sugar molecule with a Pac Man-like chewing motion and holds it until it can be used. Their results could help design therapeutics that could make the protein poorer at grabbing and holding and hence compromise the pathogen in the host. The study has now been published in “Biophysical Journal”.
The cells of the mouth, nose and intestinal mucosa produce large quantities of a chemical called sialic acid. Many bacteria possess a special transport system...
UMD, NOAA collaboration demonstrates suitability of in-orbit datasets for weather satellite calibration
"Traffic and weather, together on the hour!" blasts your local radio station, while your smartphone knows the weather halfway across the world. A network of...
Fiber-reinforced plastics (FRP) are frequently used in the aeronautic and automobile industry. However, the repair of workpieces made of these composite materials is often less profitable than exchanging the part. In order to increase the lifetime of FRP parts and to make them more eco-efficient, the Laser Zentrum Hannover e.V. (LZH) and the Apodius GmbH want to combine a new measuring device for fiber layer orientation with an innovative laser-based repair process.
Defects in FRP pieces may be production or operation-related. Whether or not repair is cost-effective depends on the geometry of the defective area, the tools...
10.01.2017 | Event News
09.01.2017 | Event News
05.01.2017 | Event News
16.01.2017 | Power and Electrical Engineering
16.01.2017 | Information Technology
16.01.2017 | Power and Electrical Engineering