2024/10/07

More than 2,000 kilometers by bicycle from Treviso to Bilbao to raise awareness about fatal familial insomnia

The journey undertaken by Fabio Mariuzzo, member of the Italian Association of Relatives of People Affected by Fatal Familial Insomnia, which concluded today at CIC bioGUNE with a joint awareness and outreach event with the Spanish Foundation for Prion Diseases, aims to create a synergistic network among various national and international associations involved in the research of rare prion diseases.

Italy and Spain have the highest percentages of cases of this disease worldwide, with more than half of the national cases detected in Euskadi, Navarra, Treviño, Murcia, and the Sierra de Segura in Jaén.

This is a very rare hereditary disease, included in the group of diseases caused by prions, which attacks the part of the brain that controls the sleep cycle. Its main symptoms include persistent insomnia, weight loss, difficulty speaking and walking, vegetative system disturbances, fever, and tachycardia.

Fatal familial insomnia is a very rare hereditary disease that falls under the group of prion-caused diseases. It is triggered by a mutation of the PRNP gene located on human chromosome 20, which leads to the abnormal production of PrPSc (prion protein), an altered derivative of a brain protein that exists in all individuals. The accumulation of this prion protein causes brain degeneration, particularly affecting the thalamus, and results in persistent insomnia, memory deterioration, difficulty moving, weight loss, and other neurological symptoms. The disease progresses rapidly and severely, eventually leading patients into a coma.

Spain and Italy have the highest percentages of cases of this disease globally, and approximately half of those predicted to develop the disease in Spain reside in Euskadi. Other regions with a higher incidence of the disease include Navarra, Treviño, Murcia, and the Sierra de Segura in Jaén. The neurodegeneration caused by the disease progresses rapidly, and there is currently no curative treatment available.

"The hypothesis is that this occurs because an initial patient carrying the mutation, known as the founder, who may have originated from Eastern Europe, first migrated to Italy and later settled in Álava, where they had descendants. Since it is a dominant hereditary disease, each descendant of a carrier has a 50% chance of inheriting it", explains Joaquín Castilla, Ikerbasque researcher at CIC bioGUNE, member of BRTA, and president of the Spanish Foundation for Prion Diseases.

With the goal of raising awareness about this disease and creating a synergistic network among the various national and international associations involved in rare prion disease research, Fabio Mariuzzo, member of the Italian Association of Relatives of People Affected by Fatal Familial Insomnia (AFIFF), has cycled the 2,000 kilometers from Treviso (Italy) to Bilbao. This journey holds great symbolic significance as it follows the same path that the carrier of the disease took centuries ago, resulting in the high incidence of fatal familial insomnia in Spain.

Fabio Mariuzzo was welcomed by members of the Spanish Foundation for Prion Diseases (FEEP), along with the Italian Embassy, represented by the Scientific Attaché, Prof. Sergio Scopetta. Also in attendance were the mayor of Derio, Ms. Esther Apraiz Fernández de la Peña, and the deputy mayor, Nekane Aiarza Zallo. Following this, the representatives visited the facilities of CIC bioGUNE, where they met with researchers working on prion diseases.

The prion laboratory team at CIC bioGUNE, led by Joaquín Castilla, is currently investigating the mechanisms that lead to prion formation - neurotoxic proteins responsible for such diseases - starting from a harmless version that exists abundantly in the nervous system of all individuals. To this end, they are developing systems that allow them to reproduce this process in test tubes, as well as animal models that faithfully mimic the human disease. Using these tools, the laboratory explores various therapeutic strategies and works to improve diagnosis.

Recently, CIC bioGUNE team achieved a crucial milestone in the fight against prion diseases by developing a revolutionary technology that allows for the spontaneous generation of hundreds of new infectious prions.

This innovative method, published in the scientific journal Nature Communications, provides tools to improve the understanding of the underlying mechanisms of prion diseases, such as Creutzfeldt-Jakob disease or Fatal Familial Insomnia in humans - devastating and currently incurable conditions.

About CIC bioGUNE
The Centre for Cooperative Research in Biosciences (CIC bioGUNE), member of the Basque Research & Technology Alliance (BRTA), located in the Bizkaia Technology Park, is a biomedical research organisation conducting cutting-edge research at the interface between structural, molecular and cell biology, with a particular focus on generating knowledge on the molecular bases of disease, for use in the development of new diagnostic methods and advanced therapies.

About Ikerbasque
Ikerbasque - Basque Foundation for Science - is the result of an initiative of the Department of Education of the Basque Government that aims to reinforce the commitment to scientific research by attracting, recovering and consolidating excellent researchers from all over the world. Currently, it is a consolidated organization that has 290 researchers/s, who develop their work in all fields of knowledge.

About BRTA
BRTA is an alliance of 4 collaborative research centres (CIC bioGUNE, CIC nanoGUNE, CIC biomaGUNE y CIC energiGUNE) and 13 technology centres (Azterlan, Azti, Ceit, Cidetec, Gaiker, Ideko, Ikerlan, Leartiker, Lortek, Neiker, Tecnalia, Tekniker y Vicomtech) with the main objective of developing advanced technological solutions for the Basque corporate fabric.

With the support of the Basque Government, the SPRI Group and the Provincial Councils of the three territories, the alliance seeks to promote collaboration between the research centres, strengthen the conditions to generate and transfer knowledge to companies, contributing to their competitiveness and outspreading the Basque scientific-technological capacity abroad.

BRTA has a workforce of 3,500 professionals, executes 22% of the Basque Country's R&D investment, registers an annual turnover of more than 300 million euros and generates 100 European and international patents per year.

Spanish version