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Astrocytes: new anti-epileptic targets in Lafora disease

18th national competition for scientific and technical research

Rare diseases

Senior Researcher : Pascual Felipe Sanz Bigorra


Lafora disease (LD) is rare neurological disorder characterized by progressive myoclonus epilepsy and accumulation of poorly branched glycogen-like deposits in brain, named Lafora bodies (LBs). Unfortunately there is no available treatment yet for this disease, what leads to the death of the patient around ten years after the appearance of the first symptoms. In the present project we propose to gain knowledge on the dysfunctions present in astrocytes from mouse models of Lafora disease, with the aim to identify novel therapeutic targets that could benefit the disease.

We have demonstrated that most of the LBs co-localize with astrocytic markers such as glial fibrillary acidic protein (GFAP) and glutamine synthase. In addition, we have observed that astrocytes from LD mouse models accumulate higher levels of glycogen than controls. We have also carried out a transcriptomic analysis of the differential expression of genes in the brain from two different models of LD. Our results indicate that in both cases there is an upregulation of pro-inflammatory mediators. We have also observed that the expression of these genes increases with age and severity of the symptoms. As these upregulated genes have a glial origin, we suggest that the activation of glia (astrocytes + microgia) could be the first step that would trigger the inflammatory process that would lead to the characteristic pathophysiology of LD. Finally, we have observed that LD astrocytes have an impaired glutamate uptake due to lower levels of the corresponding transporter at the plasma membrane. This deficiency would lead to increased neuronal hiperexcitability and the appearance of seizures.

These results suggest that astrocytes play a crucial role in the pathophysiology of Lafora disease, and that their dysfunction may lead to neuronal alterations. Thus, they define astrocytes as novel therapeutic targets in LD.


Scientific Production
Magazine Articles 8
Communications at national conferences -
Communications at international conferences 11


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