Published in the latest issue of Nature Neuroscience, this finding has been made by a team of Spanish researchers led by Joan J. Guinovart, director of the Institute for Research in Biomedicine (IRB Barcelona) and senior professor at the University of Barcelona (UB), and Santiago Rodríguez de Córdoba, research professor at the Centro Superior de Investigaciones Científicas (CSIC).
This research has been possible thanks to close collaboration between these two groups, who, in addition, have been assisted by neurobiology expert Eduardo Soriano, who is also a researcher at IRB Barcelona and senior professor at the UB.
The researchers made the discovery while studying Lafora disease, a rare pathology that causes irreversible neurodegeneration in adolescents and for which no treatment is available. Lafora disease generally presents as epileptic seizures between 10 to 17 years of age and later on as myoclonus (involuntary twitching of the arms and legs). Its evolution is marked by progressive degeneration of the nervous system which reduces the patient to a terminal vegetative state ten years after its onset. This disease is inherited from parents who are carriers of mutations in one of the two genes associated with the pathology. These genes are called laforin (named after Dr. Lafora) and malin (from the French expression “le grand mal”, used to refer to epilepsy). The disease is characterized by the accumulation of abnormal inclusions, known as Lafora bodies, in neurons.
The study describes the function of laforin and malin, explains the origin of Lafora bodies and identifies how the neurodegenerative process of this disease arises. Joan J. Guinovart, expert in glycogen metabolism explains, “We have observed that laforin and malin act jointly as “guardians” of glycogen levels in neurons and are stimulated by the degradation of the proteins responsible for glucose accumulation. In a situation in which either of the two genes loses its function, these proteins are not degraded, glycogen accumulates and thus neurons deteriorate and cell suicide (apoptosis) ensues.
The conclusions of the study have increased expectations of finding a strategy to treat Lafora disease. One strategy consists of identifying a molecule with the capacity to inhibit glycogen synthesis in neurons.
The breakthroughs on the mechanisms that trigger and block the production of glycogen may be of great use to address the study of other neurodegenerative and neurological diseases. “We have extended the hypothesis of the study to other pathologies in which glycogen has been detected in neurons because our results suggest that this molecule is a part of the problem” comments Guinovart.
Spanish research contributions to Lafora disease have significantly improved our understanding of this pathology. These contributions date back to observations made by the physician Gonzalo Rodríguez Lafora, one of Santiago Ramón y Cajal’s students, who, in 1911, discovered the presence of “Lafora bodies” in the nervous system of patients with the disease that carries his name. In 1999, the team headed by Rodríguez de Córdoba, together with José María Serratosa, identified the laforin gene.
Sònia Armengou | alfa
World’s Largest Study on Allergic Rhinitis Reveals new Risk Genes
17.07.2018 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
Plant mothers talk to their embryos via the hormone auxin
17.07.2018 | Institute of Science and Technology Austria
For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.
To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...
For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.
Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...
Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.
A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...
Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.
"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....
Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.
Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...
13.07.2018 | Event News
12.07.2018 | Event News
03.07.2018 | Event News
17.07.2018 | Information Technology
17.07.2018 | Materials Sciences
17.07.2018 | Power and Electrical Engineering