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The accumulation of sugar in neurons may explain the origin of several neurodegenerative diseases
Date:10/21/2007

A phenomenon considered healthy for cells, such as the accumulation of long chains of glucose (glycogen), which tissues store for energy purposes, is harmful for neurons. 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 Rodrguez de Crdoba, research professor at the Centro Superior de Investigaciones Cientficas (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 neuron
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Contact: Sonia Armengou
sonia.armengou@irbbarcelona.org
34-934-037-255
Institute for Research in Biomedicine (IRB Barcelona)
Source:Eurekalert

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