Mayo Clinic researchers have identified a previously unknown form of muscular dystrophy, a group of genetic diseases characterized by progressive weakness and muscle degeneration. This newly identified form develops after age 40 and causes heart muscle damage, limb muscle weakness and nerve damage. The researchers have named the newly defined disorder "zaspopathy" (Zas-PO-path-ee).
Some 50,000 Americans have some form of muscular dystrophy, and there are currently no cures. Mayo Clinic researchers note that their work may help contribute to a cure because it increases the understanding of the muscular dystrophy disease process and the role genes play in it. They say their research is a crucial first step toward discovering treatments, because genes offer a promising target at which aim new therapies. The report on the discovery will appear in the Jan. 26 online version of the journal Annals of Neurology.
The Mayo Clinic researchers found that any one of three mutations in the gene that supplies the instructions for creating a protein known as " ZASP" can cause the newly defined disorder. The genes involved in zaspopathy are passed along to offspring in a dominant manner. This means that a child will develop the disorder by inheriting one copy of the mutant gene from one parent. The Mayo Clinic researchers tentatively named the new syndrome "zaspopathy" after the affected ZASP protein.
Lisa Lucier | EurekAlert!
Symbiotic bacteria: from hitchhiker to beetle bodyguard
28.04.2017 | Johannes Gutenberg-Universität Mainz
Nose2Brain – Better Therapy for Multiple Sclerosis
28.04.2017 | Fraunhofer-Institut für Grenzflächen- und Bioverfahrenstechnik IGB
More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
28.04.2017 | Event News
20.04.2017 | Event News
18.04.2017 | Event News
28.04.2017 | Medical Engineering
28.04.2017 | Earth Sciences
28.04.2017 | Life Sciences