Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease.

摘要: Lafora disease (LD), the most devastating adolescence-onset epilepsy, is caused by mutations in EPM2A or EPM2B genes, which encode proteins laforin and malin, respectively. Loss of function one these proteins, are involved regulation glycogen synthesis, induces accumulation polyglucosan bodies (PGBs)-known as (LBs) associated with neurons-in brain. Ageing some neurodegenerative conditions lead to appearance another type PGB called corpora amylacea, astrocytes contain neo-epitopes that can be recognized natural antibodies. Here we studied PGBs cerebral cortex hippocampus malin knockout mice, a mouse model LD. These animals presented not only LBs neurons but also significant number astrocytes. astrocytic were increased mice from senescence-accelerated mouse-prone 8 (SAMP8) strain overexpression Protein Targeting Glycogen (PTGOE ), indicating they exclusive The PGBs, neuronal LBs, contained appeared predominantly present cortical brain regions, while found mainly pyramidal layer hippocampal regions CA2 CA3. Our results indicate astrocytes, contrary current belief, etiopathogenesis