11-11-2013

Two catalan research group are part of the international consortium who get to identify 11 new genes linked to Alzheimer’s

A research from the consortium IGAP (International Genomics of Alzheimer’s Project) suggested for the first time that 11 gens play a key role in the common late-onset form of Alzheimer’s. The international team involves, between others, researchers from the Catalan ACE Foundation, (Institut Català de Neurociències Aplicades), and the Institut de Investigació Biomèdica (IBB) Sant Pau.
These results, which have just been published online by the prestigious journal Nature Genetics, come from a whole genome association study (GWAS) assisted by an international consortium. The paper presents an initial meta-analysis of four previously published GWAS data sets. In a second stage, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer’s disease cases and 11,312 controls. In addition to the APOE locus, 19 loci reached genome-wide significance, of which 11 are newly associated with Alzheimer’s disease.
The function of some of these 19 genes is related to molecular mechanisms already identified as impaired in AD, such as the production of beta- amyloid peptide and synaptic transmission. However, its specific identification could be turned into new targets for pharmacological research aimed at combating this disease. But the isolation of genes whose functions were not studied until now, opens new possibilities. Among them, there are certain genes located in the region HLADRB5/DRB1 (essential for the immunological system), which corroborates the role of the immune system in Alzheimer’s disease.
This project involved nine Spanish research centers, including two Catalans, The Department of Neurology from IBB and the ACE (Alzheimer Foundation Education Center) Foundation.
The IIB Sant Pau, led by the neurologist James Kulisevsky, was established in May 2009 as an association of healthcare organizations with their own research program. Different research areas participate in this program, including neurological and mental disorders. Jordi Clarimón, coordinator of the “Genetics in Neurodegenerative Diseases” group and Alberto Leon, coordinator of the “Neurobiology of Dementia” group, have participated directly in the project of IGAP consortium.

The other center is the Catalan Institute of Applied Neurosciences, associated with the ACE Foundation. A clinical psychologist, Lluís Tárraga Mestre, and a neurologist, Mercè Boada Rovira, are the charter members of this family Foundation, which is recognized in the European Union as a specialized centre for the diagnosis and treatment of Alzheimer’s disease. Both Dr. Boada and the geneticist Agustín Ruiz, head of research at the Foundation, have collaborated in the work and are also listed on the publication’s co-author list.
Jordi Clarimón explained “these findings do not change, at least in a short term, both diagnosing and treating Alzheimer’s disease, but help us understand the genetic bases of the neurodegenerative processes that occur in Alzheimer’s disease”. In this way, “although we cannot design, for instance, genetic tests of risk for common forms of the disease, the identification of these genes is a essential advance in the research of new biomarkers”.

In the words of Agustín Ruiz, “this study is only a preview, more details of IGAP data will follow shortly. These data will shake the understanding of the genetic basis of the disease.” According to Ruiz, “it is necessary to extend the retrieved information, and come back to the laboratory to turn this knowledge into new therapies and diagnostic tools for future applications.”

In November, all these researchers will probably participate on the annual meeting of the Spanish Society of Neurology (SEN), which will be held in Barcelona. This event will keep the trend of this city to become an important attraction pole for national and international biomedical meetings. Therefore, from 2014 to 2019 Barcelona will host, along with Vienna, the annual congress of the United European Gastroenterology (UEG Week). Both cities will take turns on hosting an event that brings together about 14,000 participants.

Elena Escubedo (Universitat de Barcelona )

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