Changes in microRNA production help to better understand Lafora’s epilepsy

A Spanish research team has found differences in the production of microRNA (small molecules that regulate gene expression) at the level of brain tissue in mouse models of Lafora disease, which contributes to improving knowledge of this pathology at the molecular level and facilitating its diagnosis. monitoring.

At work, published in the magazine International Journal of Molecular Sciencesthe Institute of Biomedicine of Valencia (IBV), the CSIC, the Institute of Health Research INCLIVA, the University of Valencia (UV) and the Center for Biomedical Research in the Network of Rare Diseases (CIBERER).

Lafora disease is a type of neurodegenerative epilepsy that presents with visual and auditory hallucinations, in addition to various other neurological symptoms. In all cases there is a progressive and very rapid deterioration that, after manifesting itself in adolescence, ends with a fatal outcome, since there is no cure or treatment other than some palliative therapies.

This disease produces visual and auditory hallucinations, as well as various other neurological symptoms. In all cases. there is a progressive and very rapid deterioration

It is a minority disease with an estimated prevalence of one case per million inhabitants, but a little more frequent in certain population centers, especially in regions of the Mediterranean basin, North Africa or South India, for example.

The differences found at the cellular and molecular level, both in patients and in cellular models and experimental animals, account for a multiplicity of altered processes that are crucial for the proper functioning of the organism, providing interesting clues about the pathophysiology that can be used, in turn, to better understand other types of epilepsy or similar illnesses.

Genes that produce microRNA molecules

The work began as a continuation of a study carried out in mouse models of the disease, where the gene expression profile was analyzed. On the occasion, a similar analysis was carried out, but focusing attention on a specific type of genes, those that do not give rise to the creation of proteins in the organism, but molecules known as microRNA, which constitute a control tool for the genes of the organism itself. body.

These microRNAs have also been found elevated in other pathologies associated with epilepsy, but this is the first time they have been found in models of Lafora disease.

Small RNA sequencing was performed and computer analysis of the data revealed that in disease model mice, as opposed to healthy control mice, there were two particular types of microRNA that were closely related to each other. These microRNAs have also been found elevated in other pathologies associated with epilepsy, but this is the first time they have been found in models of Lafora disease.

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This increase progressed as the animals aged and therefore could be used as a mechanism for monitoring disease progress at the molecular level. At the same time, it was found that some genes related to inflammatory processes in the central nervous system were also increased, thus completing and enriching the panorama obtained thanks to the previous study at the level of gene expression.

This Monday, February 13th, is the International Day of Epilepsy, with the aim of drawing attention to the need to continue to investigate its knowledge, to stop the progressive deterioration that occurs in many cases and to improve the quality of life. who suffers from it.

Epilepsy occurs when there is a lack of coordination in the communication between nerve cells, which gives rise to phenomena of uncontrolled excitation that manifest themselves in several ways, the best known being the generation of involuntary muscle contractions and spasms. However, there are many different forms of epileptic phenomena that can range from changes in neuronal connectivity that are reflected in changes in brain waves during sleep, only recordable by electroencephalography, to generalized seizures of great severity and fatal consequences.

science team

The main researchers of the work are the professor of the University of Valencia Carlos Romá-Mateo and Pascual Sanz, leader of the Nutrient Signaling Unit of the IBV-CSIC. Among the authors are Federico Pallardó, coordinator of the INCLIVA group; José Luis García Giménez, CIBERER researcher; Mireia Moreno, from IBV-CSIC and CIBERER; Carmen Aguado, responsible for the CIBERER Biobank; and Concepción Garcés, from UV.

There are many different forms of epileptic phenomena, which can range from changes in neuronal connectivity to severe generalized seizures.

IBV-CSIC’s participation in the research consisted of obtaining tissue samples from control mice and models of Lafora’s disease for the initial high-throughput study, as well as subsequent samples for validation and analysis of the obtained miRNA. Furthermore, the team collaborated in analyzing the expression of candidate genes to be regulated by the identified miRNAs.

The sequencing of the microRNAs was carried out in the sequencing unit of the Central Medicine Research Unit (UCIM) of the Faculty of Medicine of the UV, thanks to the equipment acquired with ERDF funds, through the Alliance for Translational Research in Diseases. Valencian Community (AITER) of which UV, INCLIVA, CIBER and IBV-CSIC are members.


Roma-Mateo, C. et al. Age-related microRNA overexpression in male mice with Lafora disease provides links between neuroinflammation and oxidative stress. International Journal of Molecular Sciences (2023).

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