CNC-UC team receives 782 thousand euros for the study of neurodevelopmental disorders and epilepsy

15 september, 2020≈ 4 min read

© CNC | João Cardoso

A project coordinated by the Centre for Neurosciences and Cell Biology of the University of Coimbra (CNC-UC), dedicated to the study of neurodevelopmental disorders and epilepsy, aimed at developing more effective therapies, has just received 782 thousand euros in funding from the "la Caixa" Foundation under the "Health Research 2020" programme.

The project, "MStar - Potassium channel dysfunction in models of neurodevelopmental disorders", aims to study the links between neuropsychiatric diseases and epilepsy, which could allow the development of better treatments for these pathologies. It is known that around half of people with intellectual disabilities also suffer from epilepsy, and patients with schizophrenia have an increased risk of developing seizures compared to the rest of the population. It is therefore believed that disorders of brain development (such as intellectual disability and schizophrenia) and epilepsy share cellular mechanisms that may underlie their origins.

"Neuropsychiatric disorders are the second leading cause of years of healthy life lost due to disability and are often exacerbated by the presence of epilepsy. However, in most cases it is not clear how the pathologies are linked," explains Ana Luísa Carvalho, project coordinator and professor at the Department of Life Sciences (DCV) of the Faculty of Sciences and Technology of the University of Coimbra (FCTUC).

Thus, according to the CNC team leader, "in this project we are studying a mechanism for regulating neuronal activity that we believe is involved in some neurodevelopmental diseases, such as intellectual disability and schizophrenia, and at the same time in an increasing predisposition to epilepsy".

One of the bases of this research is the results of a previous study carried out by Ana Luísa Carvalho's team, which focused on the analysis of neuronal functions, such as the excitability of neurons responsible for proteins known as M-channels, a family of potassium channels. The researchers found a new mechanism for regulating neuronal excitability through the regulation of M channels, which depends on a mutated gene in some patients with intellectual disabilities or schizophrenia. The funds now being provided by the "la Caixa" Foundation will therefore make it possible to understand how this mechanism regulates M channels and to test therapies that target dysfunctional regulatory mechanisms that may be at the root of epileptic seizures.

The three-year study will use animal models of the disease, but also human cells "differentiated into neurons that carry mutations associated with intellectual disability and schizophrenia, and that increase susceptibility to epilepsy", says Ana Luísa Carvalho, who emphasises that the project "on the one hand explores a new mechanism for regulating M-type potassium channels, regulators of neuronal excitability, and on the other, aims to understand how changes in this mechanism can link the occurrence of epilepsy to neurodevelopmental disorders. Understanding this link is essential for the development of more targeted therapies".

In addition to Ana Luísa Carvalho, the team includes Paulo Pinheiro, Irina Moreira, Ângela Inácio, Gladys Caldeira and Marina Rodrigues, also researchers at CNC-UC. The project is part of a research consortium that includes CNC-UC and the Institute of Interdisciplinary Neurosciences (IINS) of the University of Bordeaux.

The "Health Research Programme" is funded by the Iberian Research and Biomedical Innovation Initiative, promoted by the "la Caixa" Foundation and the Portuguese Foundation for Science and Technology (FCT). The programme is aimed at research and development projects in biomedicine and health and, according to the la Caixa Foundation, aims to "identify and promote initiatives of scientific excellence with greater potential and impact on society, both in basic research and in clinical or translational research".

Translation by Diana Taborda