EpiDisease, a biomedical company located in the Parc Científic de la Universitat de València, specialized in R&D services in epigenetics and in the development of diagnostic tests, participates in the development of a study in which differences in the production of microRNA at the brain tissue level have been found in mice model of Lafora disease to improve molecular knowledge and facilitate its monitoring
EpiDisease, a biomedical company located at the Parc Científic de la Universitat de València (PCUV), has participated in the bioinformatics analysis and identification of candidates in a paper published in the International Journal of Molecular Sciences, in collaboration with the Institute of Biomedicine of Valencia (IBV), the Spanish National Research Council, the INCLIVA Health Research Institute, the University of Valencia and the Center for Biomedical Research Network on Rare Diseases (CIBERER).
Lafora disease is a type of neurodegenerative epilepsy that causes visual and auditory hallucinations, as well as various other neurological symptoms. As a common denominator, in all cases there is a progressive and very rapid deterioration that, after manifesting in adolescence, ends with a fatal outcome, since there is no cure or treatment beyond some palliative therapies.
With an estimated prevalence of one case per million inhabitants, this disease is somewhat more frequent in certain population centers, especially in regions of the Mediterranean basin, North Africa and southern India, as was recalled on February 13, International Epilepsy Day, a celebration that aimed to draw attention to the need for further research into its knowledge, to halt the progressive deterioration that occurs in many cases and improve the quality of life of those who suffer from it.
Lafora disease is a type of neurodegenerative epilepsy that causes visual and auditory hallucinations, as well as various other neurological symptoms
Genes that produce microRNA molecules
The work began as a continuation of a study carried out in mice models of the disease, where the gene expression profile was analyzed. On this occasion, the researchers have carried out a similar analysis focusing on a specific type of genes, those that do not give rise to the creation of proteins in the organism, but to molecules known as microRNAs, which are a tool for controlling the organism's own genes.
"Small RNA sequencing (Small RNA seq) was performed and, by analyzing the data computationally, it was discovered that in the disease model mice, unlike healthy control mice, there were two specific types of microRNAs that were highly elevated. These microRNAs have also been found to be elevated in other epilepsy pathologies, but this is the first time they have been found in models of Lafora disease," explains José Luis García Giménez, CEO of EpiDisease and co-author of the study.
Observing that the increase progressed as the animals aged, the researchers determined that they could be used as a mechanism to monitor disease progression at the molecular level. In parallel, some genes related to inflammation processes in the central nervous system were also found to be upregulated, thus completing and enriching the picture obtained from the previous gene expression study.
These microRNAs have also been found to be elevated in other epilepsy pathologies, but this is the first time they have been found in models of Lafora disease
The scientific team
The principal investigators of the study are Carlos Romá-Mateo, professor at the University of Valencia, and Pascual Sanz, leader of the Nutrient Signaling Unit at IBV-CSIC. The authors include Federico Pallardó, coordinator of the INCLIVA group; José Luis García Giménez, CIBERER researcher and CEO of EpiDisease; Mireia Moreno, IBV-CSIC and CIBERER; Carmen Aguado, head of the CIBERER Biobank; and Concepción Garcés, from the UV.
IBV-CSIC's participation in the research consisted of obtaining tissue samples from control mice and models of Lafora disease for the initial high-throughput study, as well as subsequent samples for the validation and analysis of the miRNAs obtained. In addition, the team collaborated in the expression analysis of candidate genes to be regulated by the identified miRNAs.
The sequencing of the microRNAs was performed in the sequencing unit of the Central Unit for Research in Medicine (UCIM) at the Faculty of Medicine of the UV, thanks to the equipment purchased with FEDER funds, through the Alliance for Translational Research in Rare Diseases of the Valencian Community (AITER) of which the UV, INCLIVA, CIBER and IBV-CSIC are part of.
News in the media
Alterations in microRNA production help to better understand Lafora epilepsy https://www.agenciasinc.es/Noticias/Alteraciones-en-la-produccion-de-microARN-ayudan-a-entender-mejor-la-epilepsia-de-Lafora