Researchers from the Donostia Hospital from San Sebastián have been involved in the international study that has identified a genetic factor in frontotemporal dementia unknown until now. This neurodegenerative disease comprises 20% of all types of dementia and affects 1-2% of the population over 65 years. The study, which could help to delay or minimise the disease, has involved more than 100 centres from 20 countries and has been published in the Nature Genetics scientific journal.

The Dementia Unit of the Neurology Department at the Donostia Hospital and the Neurosciences Area of the Biodonostia Institute were involved in this study, which looked for a genetic feature conferring risk to frontotemporal dementia development. More than 600 patients were evaluated and more than 3,000 tests were conducted.

The research concluded that a common factor - a genetic polymorphism in a gene located in chromosome 7 – might affect some aspects linked to the occurrence of this disorder. In consequence, there is a genetic factor controlling the occurrence of the disease and that might explain its severity or the moment when it appears.

The study was lead by Adolfo López de Muniain and Ainhoa Alzualde from the Donostia Hospital and supported by the Basque Government, the County Council of Gipuzkoa, the Carlos III Institute and the Ilundain Foundation.

Adolfo López de Muniain states that this finding is the starting point to minimise the disease in the near future: “If we could modify this factor, we could aim at changing the expression of the disease. The higher the gene expression, the more severe the disease; therefore, any procedure silencing its function, in principle, might become a treatment for the disease. Even though we have found this key issue, it does not mean that there is already a therapy, but we now know where to focus our research efforts”.