March 31, 2015

Finnish breakthrough in Alzheimer’s research

The genetic variant discovered by the University of Eastern Finland doubles the risk of Alzheimer’s disease.
The genetic variant discovered by the University of Eastern Finland doubles the risk of Alzheimer’s disease.
SARI GUSTAFSSON/LEHTIKUVA

A research team at the University of Eastern Finland has made a significant genetic variant discovery. As a result of an international collaborative project, the team has identified mutations in the ABCA7 gene that double the risk of developing Alzheimer’s disease. 

Professor Hilkka Soininen explained in an interview with Yle that this finding is 10 times more significant than the other recent genetic variant research findings related to Alzheimer’s disease.

Alzheimer’s disease is the most common cause of dementia, whose impact on national health increases with the ageing of the population. Research on the genetic background and genetic variants is therefore highly important for, among other things, the prevention of the disease and the development of new treatments.

The study published in Nature Genetics investigated loss-of-function genetic variants in particular. In the genetic mapping of Icelanders, mutations were detected in the ABCA7 gene that regulates cellular transport of lipids. These mutations, which inhibit the gene’s function on the protein level, are far more common in patients with Alzheimer’s disease than in the healthy control group.

Another study, which was published in Neurobiology of Aging, shows that the decline in ABCA7 protein levels causes an increase in the level of b-amyloid peptide which is detrimental to nerve cells. Alzheimer’s disease is essentially characterised by the accumulation of b-amyloid peptide in the brain tissue as amyloid plaques. This study was carried out jointly by the Universities of Eastern Finland and Helsinki.

The findings will help plan and target further studies on Alzheimer’s disease, thus allowing the development of applications in individualised medicine. The studies are part of the UEF Brain project funded by the University of Eastern Finland.

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