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
A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau
On the way to developing a new active ingredient against chronic infections
21.08.2017 | Deutsches Zentrum für Infektionsforschung
Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...
Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...
For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...
An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.
The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...
A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
16.08.2017 | Event News
04.08.2017 | Event News
26.07.2017 | Event News
22.08.2017 | Physics and Astronomy
22.08.2017 | Power and Electrical Engineering
22.08.2017 | Medical Engineering