In a research published in the advanced online publication of the scientific magazine Nature Genetics, researchers have identified a genetic defect for common epilepsies on chromosome 15.
A subset of the patients with epilepsy lacked a certain part of this chromosome. Further studies on patients from the USA confirmed this finding. The loss of small chromosomal segments, called microdeletions by geneticists, has previously not been connected with common disorders that also include many types of common epilepsies.
Dr. Ingo Helbig, University of Kiel and Department of Neuropediatrics at the University Medical Center Schleswig Holstein, Germany, is first author on this research study: “So far, we didn’t know that microdeletions, loss of entire chromosomal segments including several genes, can also be a cause for common diseases. This finding will help understand why people suffer from common disorders including epilepsies.”
Up to three percent of the population experience epileptic seizures and one percent suffers from epilepsy, which is characterised by recurrent seizures. The researchers hope that understanding how this genetic defect leads to epilepsy will help develop new drugs against seizures. So far, most genes for epilepsy were only found in rare form of epilepsies. However, hereditary factors are long known to play a much larger role, contributing to many common forms of seizure disorders. Hence, the discovery of the 15q13.3 microdeletions in common epilepsies is an important milestone.
44 coauthors contributed to the recent study, which was coordinated by Dr. Thomas Sander from the Cologne Center of Genomic at the University of Cologne, Germany. On a European level, this project included German groups from Berlin, Bonn, Marburg, Ulm as well as groups from Vienna, Copenhagen, Utrecht (NL), Geneva, Troina (Italy), Marseille and Nice. The research study was performed in collaboration with the group of Dr. Evan Eichler at the Department of Genome Sciences and Howard Hughes Medical Institute at the University of Washington, Seattle. Dr. Eichler is one of the pioneers of research on microdeletions in human disease.
Many authors on this research papers are part of the European EPICURE project of the European Union, a large consortium dedicated to the research of epilepsies.
Susanne Schuck | alfa
One step closer to reality
20.04.2018 | Max-Planck-Institut für Entwicklungsbiologie
The dark side of cichlid fish: from cannibal to caregiver
20.04.2018 | Veterinärmedizinische Universität Wien
University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.
Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.
Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.
Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...
Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.
The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...
Stable joint cartilage can be produced from adult stem cells originating from bone marrow. This is made possible by inducing specific molecular processes occurring during embryonic cartilage formation, as researchers from the University and University Hospital of Basel report in the scientific journal PNAS.
Certain mesenchymal stem/stromal cells from the bone marrow of adults are considered extremely promising for skeletal tissue regeneration. These adult stem...
In the fight against cancer, scientists are developing new drugs to hit tumor cells at so far unused weak points. Such a “sore spot” is the protein complex...
13.04.2018 | Event News
12.04.2018 | Event News
09.04.2018 | Event News
20.04.2018 | Physics and Astronomy
20.04.2018 | Interdisciplinary Research
20.04.2018 | Physics and Astronomy