Where Ideas Grow

i3S researcher receives EMBO grant to study rare diseases

Researcher Vítor Teixeira was recently recognized by the European Molecular Biology Organization (EMBO) with a Scientific Exchange Grant, which will allow him to carry out experimental work at the Institute of Weizmann Science in Israel in the area of rare diseases related to gene mutations.

Developing research in the “Yeast Signaling Networks” group, Vítor Teixeira is dedicated to the study of a set of rare neurodegenerative diseases that affect motor neurons and that result from mutations of a newly characterized gene, the seipin gene. Seipin is a protein that is involved in the formation of lipid droplets, which accumulate fat in cells. The mutations identified in this gene cause the protein to acquire an aberrant conformation, which makes them more prone to aggregate and form structures that cause cellular dysfunction.

Recently, explains the researcher, “our laboratory established a model of the disease, called seipinopathy and we found evidence for the first time of the accumulation of cell damage caused by protein aggregates and oxidative stress caused by reactive oxygen species, which are unstable and toxic molecules in the context of this disease”. However, very little is known about the process of aggregation of the altered form of the protein and, above all, how cells deal with the damage generated.

It was from these questions that Vítor Teixeira applied to EMBO with a project that aims to identify genes that modify the mutated protein aggregation process and define which functions and molecular processes are most affected. This knowledge “is essential for understanding the pathological mechanisms underlying the disease and for the search for new therapeutic targets for this disease and other related neuromotor diseases”.

With this grant, explains Vítor Teixeira, “I will have the opportunity to work in Dr Maya Schuldiner’s laboratory for two months. The group has extensive knowledge in the area of Molecular Biology and has a vast set of automated and well-established techniques and technologies that will allow me to answer the questions I posed in the project”.

This research group, continues the researcher, “has successfully applied molecular methods on a large scale to define the essential pathways and mechanisms associated with numerous cellular processes and in the identification of modifying genes in disease models, which is what I want to do”. In this sense, stresses Vítor Teixeira, “I will have the opportunity to acquire new technical skills in molecular biology and large-scale genetic studies, as well as establish new contacts and scientific partnerships”.

The researcher also intends to transfer “this technology to our country and to establish at the i3S new tools that will pave the way for carrying out large-scale genetic analysis and in determining new molecular targets with the aim of evaluating their therapeutic potential in the context of illness”.