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A mouse model brings new perspectives on Lafora disease
Date:8/29/2011

Short-term energy storage in animal cells is usually achieved through the accumulation of glucose, in the form of long and branched chains, known as glycogen. But when this accumulation happens in neurons it is fatal, causing them to degenerate. This neuronal deterioration and death associated with glycogen accumulation is the hallmark of an extremely rare and progressive type of epilepsy known as Lafora disease (LD).

The journal EMBO Molecular Medicine has just published online the new insights into LD provided by a team of Spanish researchers headed by Joan J. Guinovart, director of the IRB Barcelona and Professor at the University of Barcelona (UB), in collaboration with Agns Gruart and Jos M. Delgado at the Division of Neurosciences at the Pablo Olavide University in Seville, and Eduardo Soriano, Professor at the UB and researcher at IRB Barcelona.

LD is a fatal, inherited and progressive form of epilepsy that causes irreversible neurodegeneration and for which no cure or effective treatment is available. Onset typically occurs during late childhood or adolescence, generally starting with epileptic seizures, progressing into deterioration of neurological functions. One of the hallmarks of the disease is the abnormal accumulation of glycogen aggregates, known as Lafora bodies (LB), in neurons. In these cells, two genes, malin and laforin, act in unison to block glycogen storage in normal conditions. Mutations changes in DNA in either laforin or malin genes are responsible for this disease.

The group of researchers led by Guinovart has developed a genetically engineered mice line lacking the malin gene, thus mimicking human LD in this animal model. The results obtained confirm the role of the malin-laforin complex in the regulation of glycogen synthesis in neurons. Jordi Duran, first author of the study together with Jordi Valls, explains, "Brain cells control their glycogen levels carefully by employing a 'team of wardens
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Contact: Nuria Noriega
34-934-037-255
Institute for Research in Biomedicine (IRB Barcelona)
Source:Eurekalert

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