"Now we have the opportunity to unravel the molecular mechanism behind Charcot-Marie-Tooth, as well as to start looking for substances with therapeutic value."
The breakthrough is the result of collaboration between VIB researchers working at the University of Antwerp and the Katholieke Universiteit Leuven, and appears in the Proceedings of the National Academy of Sciences (PNAS).
Charcot-Marie-Tooth is a hereditary disorder of the peripheral nervous system that affects 1 in 2,500 people worldwide. Patients suffer from progressive motor impairment, muscle wasting and weakness, sensory loss, and foot deformities. Affecting children and adults, the disease often starts with minor symptoms, gradually worsening over time. Presently CMT cannot be cured or prevented.
New chapter for an old gene
In previous research Albena Jordanova and Vincent Timmerman (VIB, University of Antwerp) discovered that CMT patients in families in Belgium, Bulgaria and the US showed three specific changes in one of the most ubiquitous genes in life: the YARS gene. YARS is responsible for the production of one of the oldest enzymes in the history of life (tyrosyl-tRNA synthetase), which is vital for the production of proteins. This was an entirely unexpected breakthrough. YARS had been considered a closed chapter in the biology textbooks. No one had suspected the relationship with specific variants of CMT until the revelation by Jordanova and her colleagues. These VIB findings open up an entirely new field of research.
Fruit flies with CMT symptoms
The VIB researchers at the University of Antwerp, in collaboration with Patrick Callaerts (VIB, K.U.Leuven) introduced four variants of the YARS gene into fruit flies. The normal variant, showed no difference in ordinary fruit flies. However, fruit flies with the mutant YARS genes, showed clear symptoms of CMT such as a reduced capacity to move, decreased functioning of the nerve cells and degeneration of the nerve endings.
Joris Gansemans | EurekAlert!
Designer cells: artificial enzyme can activate a gene switch
22.05.2018 | Universität Basel
Flow of cerebrospinal fluid regulates neural stem cell division
22.05.2018 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.
At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...
There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?
At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...
So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics
Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...
The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...
A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.
The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...
02.05.2018 | Event News
13.04.2018 | Event News
12.04.2018 | Event News
22.05.2018 | Life Sciences
22.05.2018 | Earth Sciences
22.05.2018 | Trade Fair News