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Researchers identify variation in gene PLD3 can increase risk of late-onset Alzheimer’s disease

Posted on December 27, 2013

A new study, part-funded by the Medical Research Council (MRC), the Wellcome Trust and Alzheimer’s Research UK, has shown that a fault in a gene called phospholipase D3 (PLD3) can contribute to the overproduction of amyloid-beta in the brain. Increased levels of this chemical are associated with an increased chance of developing Alzheimer’s disease and the results show that, in certain cases, this can double an individual’s risk.

An international team of researchers in the UK and the US have been using genome-wide association studies (GWAS) to identify common genetic traits in the population that can influence a person’s risk of contracting Alzheimer’s disease after the age of 60 (known as Late Onset Alzheimer’s Disease or LOAD). They then cross-analysed the data from the GWAS studies using a process known as whole-exome sequencing on 14 families with four or more members affected by Alzheimer’s. Focussing on families heavily affected by the disease, the team used a new process to identify less common genes that could have the most severe effect.

By improving researchers’ understanding of how this gene’s activity is linked to amyloid-beta production and Alzheimer’s disease, this study will open up new avenues of research for drug development and could potentially help identify people who are more vulnerable to the disease.

Read more at: MedicalXpress

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