These two animal models will allow scientists to address the genes involved in this harmful process and to find pharmacological solutions that allow disintegration of the accumulations or limitation of glycogen production. Advances in this direction would make a significant contribution to investigation into Lafora progressive myoclonic epilepsy and other neurodegenerative diseases characterised by glycogen accumulation in neurons.
“Our data clearly indicate that glycogen accumulation alone kills neurons and thus dramatically reduces lifespan”, explains Guinovart, an expert in glycogen metabolism of the University of Barcelona, “because the only thing we have manipulated in the neurons is their capacity to produce glycogen”.
The inclusion of the Drosophila fly in the study provides in vivo confirmation of the theory in another animal model as these flies also show the same symptoms of degeneration as mice when glycogen accumulates in neurons. However, in addition the use of Drosophila will speed up obtaining genetic data and the screening of therapeutic molecules. “In a short time we will be able to perform a massive search for genes involved in the pathological process and to understand it better at the molecular level”, emphasises Milán. “But the flies will also be useful to identify pharmacological molecules that can cure”, he explains.
The IRB Barcelona teams are designing several experiments to identify the possible therapeutic targets that may be useful to prevent glycogen accumulation in neurons. In addition to the direct relation to Lafora epilepsy, a progressive degenerative disease that affects adolescents and has no cure, glycogen accumulation could be the main cause of other neurodegenerative illnesses such as Adult polyglucosan body disease and Andersen’s disease.
MEDICA.de; Source: Institute for Research in Biomedicine (IRB)