Currently, there is no treatment available to cure Lafora disease, which is inherited from parents who are carriers of mutations in one of the two genes associated with the pathology, namely, laforin and malin.
The disease is characterized by the accumulation of abnormal inclusions called Lafora bodies in neurons.
Joan J. Guinovart, director of the Institute for Research in Biomedicine and senior professor at the University of Barcelona, says that the new study describes the function of laforin and malin, explains the origin of Lafora bodies and identifies how the neurodegenerative process of this disease arises.
"We have observed that laforin and malin act jointly as 'guardians' of glycogen levels in neurons and are stimulated by the degradation of the proteins responsible for glucose accumulation. In a situation in which either of the two genes loses its function, these proteins are not degraded, glycogen accumulates and thus neurons deteriorate and cell suicide (apoptosis) ensues," Nature Neuroscience quoted him as saying.
The new finding has raised expectations of finding a strategy to treat Lafora disease, and one such strategy consists of identifying a molecule with the capacity to inhibit glycogen synthesis in neurons.
According to the researchers, discovering mechanisms that trigger and block the production of glycogen may be of great use to address the study of other neurodegenerative and neurological diseases.
"We have extended the hypothesis of the study to other pathologies in which glycogen has been detected in neurons because our results suggest that this molecule is a part of the problem" Guinovart said.