Marian Martínez de Pancorbo,
researcher of Biomics UPV/EHU

Two international teams of researchers, one of which including the Biomics group from the University of the Basque Country (UPV/EHU), have identified three new genes related with Alzheimer’s. This discovery affects 20% of patients and has already been hailed as the most important advance in the last 15 years, since a variant of the APOE gene was discovered in 1993 as being responsible for 25% of diagnosed Alzheimer’s cases. Carriers of variants of these three genes have an increased probability of developing Alzheimer’s.

A team led by the University of Cardiff (UK) studied samples from 16,000 patients from 8 different countries and identified the genes CLU and PICALM. A second team, coordinated by the Pasteur Institute in Lille (France) used samples from 6,000 patients and a control group of 9,000 healthy people from 5 countries to identify a third gene called CR1.

The Biomics group from the University of the Basque Country, led by Doctor Marian Martínez de Pancorbo, participated in this second research team. Biomics is based at the Centre for Research and Advanced Studies at the Alava campus of the university and it carries out research into genetics and neurodegeneration, among other areas. The group’s considerable experience “was the determining factor for the French scientists, Doctors Amouyel and Lambert, the project leaders, in inviting Biomics to participate in the analysis of the complete genome”, explained a spokesperson for the University of the Basque Country.

Both studies have been published in Nature Genetics, the most important scientific journal in the field of genetics, and although the “hunt to identify the genetic causes of Alzheimer’s” continues, scientists believe that being able to interact with these genes will open the doors to new, more efficient pharmacological and therapeutic treatments.

Alzheimer’s is a neurodegenerative illness which causes a sharp drop in a sufferer’s quality of life. The illness manifests itself through cognitive deterioration and behavioural disorder as a result of the death of neurones and atrophy of the brain. It affects more than 26 million people worldwide and is expected to increase as the world population ages, reaching levels of 100 million people in 2020. There is as yet no known cure, and current drugs can only delay symptoms in patients.