This discovery doubles the number of genetic risk factors previously known for developing this pathology and is a great advance in knowledge about the genetic bases of dementia. The results have been published in the international Nature Genetics journal.
The research involved the largest sample of people employed to date in the study of the molecular basis of AD. In concrete, the genomes of 74,046 Alzheimer sufferers and of healthy individuals were analysed, using high-resolution genomic and biocomputer techniques.
At the first stage of the project, the researchers managed to isolate four genes linked to AD and another seven at the second stage of the study. “The function of some of these genes is linked to altered molecular mechanisms in Alzheimer’s disease, such as the cascade of manufacture of beta-amyloid peptide or synaptic transmission. Their identification has given rise to new potential targets for pharmacological research to enable curing AD “, explained Dr. Pau Pastor, Neurology researcher at CIMA and at the University Clinic of Navarra.
According to the lead researcher, “the importance of national scientific teams in this multicentre study reflects the capacity of our country for generating scientific research of worldwide importance. Also, knowing the genetic component of the illness better will, in the near future, help to individually classify patients and personalise effective treatment “.
70 million sufferers by 2030
AD is the most common cause of dementia. According to the World Health Organisation, 35.6 million persons worldwide suffer from AD or other types of dementia. The forecasts estimate that the numbers of affected persons will double by 2030 and triple by 2050, to reach 100 million persons.
Investment in research is fundamental in knowing the mechanisms involved in or inter-related with the outbreak of the illness and in its sequential development, in order to find effective treatment.
The international IGAP consortium is largely made up of Spanish public and private research centres, through the Consorcio Español de Genética de Demencias (DEGESCO). This is a project promoted jointly by ten teams belonging to the Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) and the National Health Service.
- Laura Juampérez
- Universidad de Navarra
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