Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model.

ABSTRACT: Lafora disease (LD) is a neurological disorder characterized by progressive myoclonus epilepsy. The hallmark of the disease is the presence of insoluble forms of glycogen (polyglucosan bodies, or PGBs) in the brain. The accumulation of PGBs is causative of the pathophysiological features of LD. However, despite the efforts made by different groups, the question of why PGBs accumulate in the brain is still unanswered. We have recently demonstrated that, in vivo, astrocytes accumulate most of the PGBs present in the brain, and this could lead to astrocyte dysfunction. To develop a deeper understanding of the defects present in LD astrocytes that lead to LD pathophysiology, we obtained pure primary cultures of astrocytes from LD mice from the postnatal stage under conditions that accumulate P

SUBMITTER: Moreno-Estelles M 

PROVIDER: S-EPMC10094345 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature