The evidence has been provided by a team of researchers including Dr. Arnd Heuser of the Max Delbrück Center of Molecular Medicine (MDC) Berlin-Buch, Germany, Dr. Eva R. Plovie of the Massachusetts General Hospital (MGH) in Boston, USA, and Professor Ludwig Thierfelder (MDC and Helios Klinikum Berlin/Charité) and Dr. Brenda Gerull (MDC).
The scientists searched selectively mutations in the gene Desmocollin-2 (DSC2) in a pool of 88 unrelated patients suffering from arrhythmogenic right ventricular cardiomyopathy (ARVC) and discovered a mutation that causes this cardiomyopathy. By switching off the gene in zebrafish embryos, they demonstrated that DSC2 is essential for normal mycardial structure and function. Their work has now been published in the American Journal of Human Genetics (Vol. 79, pp. 1081-1088, 2006).*
Heart-muscle disorders (cardiomyopathies) are prevalent worldwide but their origins are widely unknown. During the course of the arrhythmogenic right ventricular cardiomyopathy (ARVC), ?brofatty and connective tissue replacement takes place in the right ventricular myocardium. This leads to a dysfunction of the heart-muscle which can result in arrhythmia and cardiac insufficiency. The consequence is an increased risk of sudden cardiac death, even in young people.
The heart of an adult beats about seventy-times in a minute or around 100,000 times a day. It is, therefore, exposed to high mechanical strains. Desmosomes are mechanical structures that keep the cells bound together as if connected with push buttons so that they will not rip while beating.
In collaboration with researchers from the University Hospital of Münster, Dr. Heuser (MDC) and Dr. Plovie (MGH) searched for genetic defects in the desmosomes within a pool of 88 unrelated patients. They searched for a mutation in the gene that carries the information for the protein Desmocollin-2 (DSC2) which is part of the desmosome structure. Mutations of other desmosomal proteins have previously been detected for ARVC. Therefore, the Berlin- and Boston-based researchers assumed that mutations in DSC2 could result in ARVC, too.
Dr. Heuser and Dr. Plovie could now demonstrate that the mutation in DSC2 gene results in a reduced DSC2 protein which causes ARVC. Furthermore, the switch off of the DSC2 in zebrafish embryos showed that DSC2 is necessary for normal embryonic cardiac development. In an adult organism, a lack of DSC2 leads to disordered heart contraction and difficulties in the conduction system of the heart.
Barbara Bachtler | alfa
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The WHO reports an estimated 429,000 malaria deaths each year. The disease mostly affects tropical and subtropical regions and in particular the African continent. The Fraunhofer Institute for Silicate Research ISC teamed up with the Fraunhofer Institute for Molecular Biology and Applied Ecology IME and the Institute of Tropical Medicine at the University of Tübingen for a new test method to detect malaria parasites in blood. The idea of the research project “NanoFRET” is to develop a highly sensitive and reliable rapid diagnostic test so that patient treatment can begin as early as possible.
Malaria is caused by parasites transmitted by mosquito bite. The most dangerous form of malaria is malaria tropica. Left untreated, it is fatal in most cases....
The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.
Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...
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Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.
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The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.
Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...
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