![]() ![]() LBs are made of polyglucosan (a hyperphosphorylated, insoluble form of glycogen with abnormally long and poorly branched chains) that precipitates, aggregates, and accumulates. LD is characterized by the accumulation, over time, of LBs in the cytoplasm of some cells, including neurons. Our study adds a new tool for investigating LD and might help to identify new treatment opportunities. Early administration of trehalose was found to be effective for rescuing motor impairment and neuronal hyperexcitability associated with seizures. The model also showed increased inflammatory response and apoptotic death, as well as an altered autophagy pathway that occurs early in development and likely contributes to the disease progression. Our results showed the epm2a −/− zebrafish to be a faithful model of LD, exhibiting the main disease features, namely motor impairment and neuronal hyperexcitability with spontaneous seizures. To investigate the role of laforin loss of function in early neurodevelopment, and to screen for possible new compounds for treating the disorder, we developed a zebrafish model of LD. To date, rodents are the only available models for studying LD however, their use for drug screening is limited by regulatory restrictions and high breeding costs. ![]() Mutations in the EPM2A gene encoding laforin cause Lafora disease (LD), a progressive myoclonic epilepsy characterized by drug-resistant seizures and progressive neurological impairment. ![]()
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