Recent findings in basic biomedical research might pave the way towards novel therapies
Scientists at the Max Planck Institute for Biology of Ageing in Cologne and University College London have now unearthed the way in which a specific genetic mutation leads to neuronal damage in two serious afflictions, that might even occur at once in a single person: Until now, it has been unknown what causes amyotrophic lateral sclerosis and frontotemporal dementia.
Amyotrophic lateral sclerosis is a devastating type of motor neuron disease that causes rapid weakening of muscles and death. Frontotemporal dementia is the second most common cause of dementia in people under 65. It causes distressing symptoms, including changes in personality and behaviour and problems with language and thinking.
The DNA of affected patients contains a mutation: There are thousands of repeats of a specific short segment of genetic material, whereas in unaffected persons, there are only up to thirty copies of this segment. This specific genetic alteration is the cause of illness in around eight percent of patients with this type of motor neuron disease or dementia. Eight percent is a relatively high proportion. For instance, less than one percent of the causes in Alzheimer’s disease are genetic.
Researchers at the Max Planck Institute for Biology of Ageing, the Institute of Neurology and Institute for Healthy Ageing at University College London have now discovered that the repeats in the mutant gene cause neurodegeneration by making toxic proteins.
Fruitflies can undergo neurodegeneration in a similar way to humans
Previously it was thought that the problem could be a consequence of disruption of the gene by the inserted repeats. Another theory was that the repeats produce a different type of toxic RNA molecule. It now turns out that the repeats in the mutant gene can produce a variety of proteins and that two of these are extremely toxic to nerve cells. Both are highly enriched in arginine, an amino acid.
To pinpoint the role of the toxic proteins, the researchers produced artificial repeat segments that could produce potentially toxic RNA and protein or only toxic RNA or only protein. They then introduced them into the nerve cells of fruit flies, which can undergo neurodegeneration in a similar way to humans. Repeat segments that made both RNA and protein caused striking neurodegeneration and reduced the lifespan of the flies, showing that they are a good organism in which to study these diseases. Interestingly, the protein-only repeat segments caused just as bad a neurodegeneration. In contrast, the RNA-only segments were harmless, pinpointing the role of toxic proteins in these diseases. The proteins that contained arginine were the most toxic.
These findings have uncovered a new toxic role for arginine-containing proteins in motor neuron disease and dementia, which helps in the development of drugs to fight these serious afflictions.
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Sarah Mizielinska, Sebastian Grönke, Teresa Niccoli, Charlotte E. Ridler, Emma L. Clayton, Anny Devoy, Thomas Moens, Frances E. Norona, Ione O.C. Woollacott, Julian Pietrzyk, Karen Cleverley, Andrew J. Nicoll, Stuart Pickering-Brown, Jacqueline Dols, Melissa Cabecinha, Oliver Hendrich, Pietro Fratta, Elizabeth M.C. Fisher, Linda Partridge, and Adrian M. Isaacs.
Science Express, August 7, 2014.
Sabine Dzuck | Max-Planck-Institut
Great apes communicate cooperatively
25.05.2016 | Max-Planck-Institut für Ornithologie
Rice study decodes genetic circuitry for bacterial spore formation
24.05.2016 | Rice University
Permanent magnets are very important for technologies of the future like electromobility and renewable energy, and rare earth elements (REE) are necessary for their manufacture. The Fraunhofer Institute for Mechanics of Materials IWM in Freiburg, Germany, has now succeeded in identifying promising approaches and materials for new permanent magnets through use of an in-house simulation process based on high-throughput screening (HTS). The team was able to improve magnetic properties this way and at the same time replaced REE with elements that are less expensive and readily available. The results were published in the online technical journal “Scientific Reports”.
The starting point for IWM researchers Wolfgang Körner, Georg Krugel, and Christian Elsässer was a neodymium-iron-nitrogen compound based on a type of...
In the Beyond EUV project, the Fraunhofer Institutes for Laser Technology ILT in Aachen and for Applied Optics and Precision Engineering IOF in Jena are developing key technologies for the manufacture of a new generation of microchips using EUV radiation at a wavelength of 6.7 nm. The resulting structures are barely thicker than single atoms, and they make it possible to produce extremely integrated circuits for such items as wearables or mind-controlled prosthetic limbs.
In 1965 Gordon Moore formulated the law that came to be named after him, which states that the complexity of integrated circuits doubles every one to two...
Characterization of high-quality material reveals important details relevant to next generation nanoelectronic devices
Quantum mechanics is the field of physics governing the behavior of things on atomic scales, where things work very differently from our everyday world.
When current comes in discrete packages: Viennese scientists unravel the quantum properties of the carbon material graphene
In 2010 the Nobel Prize in physics was awarded for the discovery of the exceptional material graphene, which consists of a single layer of carbon atoms...
The trend-forward world of display technology relies on innovative materials and novel approaches to steadily advance the visual experience, for example through higher pixel densities, better contrast, larger formats or user-friendler design. Fraunhofer ISC’s newly developed materials for optics and electronics now broaden the application potential of next generation displays. Learn about lower cost-effective wet-chemical printing procedures and the new materials at the Fraunhofer ISC booth # 1021 in North Hall D during the SID International Symposium on Information Display held from 22 to 27 May 2016 at San Francisco’s Moscone Center.
24.05.2016 | Event News
20.05.2016 | Event News
19.05.2016 | Event News
25.05.2016 | Trade Fair News
25.05.2016 | Life Sciences
25.05.2016 | Power and Electrical Engineering