Scientists discover new role of astrocytes in Lafora disease

Researchers Elisabet Augé, Carme Pelegrí and Jordi Vilaplana from the Institute of Neurosciences, in collaboration with Jordi Duran and Joan J. Guinovart from Institute for Research in Biomedicine (IRB Barcelona) have published a paper about the importance of astrocytes in Lafora disease. Pelegrí and Vilaplana lead the Institute of Neuroscience’s Blood-Brain Barrier research group. The paper is titled ‘Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease’ and was published in the Glia journal on the 26th of August, 2018. The main outcome of the article point that astrocytes, contrary to current belief, are involved in the etiopathogenesis of LD.

 

Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. Most cases are caused by mutations in the EPM2A or EPM2B genes, which encode the proteins laforin and malin, respectively.

 

 

The full paper can be found here: https://doi.org/10.1002/glia.23463

Funding information: MINECO, Grant/Award Numbers: BFU2013‐47382‐P, SAF‐2014‐54525‐P, BFU2016‐78398‐P, BFU2017‐84345‐P; Agencia Estatal de Investigación (AEI); European Regional Development Funds; National Institute of Health (NIH‐NINDS), Grant/Award Number: P01NS097197; CIBER de Diabetes y Enfermedades Metabólicas; CIBER de Enfermedades Neurodegenerativas from the Instituto de Salud Carlos III; Generalitat de Catalunya, Grant/Award Number: 2014/SGR525