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!
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The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
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Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
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In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...
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