Second Rare Genetic Mutation Linked to Alzheimer's Disease Discovered

Scientists have recently discovered a second rare genetic mutation that strongly increases the risk of Alzheimer's disease later in life. According to researchers from the university of Nottingham, they have pinpointed a coding variation that's found in the Phospholipase D3 (PLD3) gene, and more common in people with late-onset Alzheimer's than non-sufferers.

Researchers believe this could play an essential role in the early diagnosis of the disease and possible improved treatment as individual carriers age.

Study authors analyzed the genes of 2,000 people with Alzheimer's and found the PLD3 gene genetic mutation-the second genetic mutation that increases the risk of Alzheimer's disease.

Background information from the study notes that PLD3 influences processing of the amyloid precursor protein that results in the generation of the characteristic amyloid plaques that are seen in the brains of those with Alzheimer's disease, suggesting a potential therapeutic target.

Study results showed that several mutations occurred in the gene more frequently in those who had the disease than non-sufferers. Carriers of PLD3 coding variants also showed a two-fold increased risk for the disease.

"Our research is forming the basis of potential diagnostics later on and more importantly it shows pathways that can be diagnostic targets which could lead to therapeutic interventions in the future," lead study author and professor of Human Genomics and Molecular Genetics, Kevin Morgan said, via a press release. "The next step will be to examine how this particular rare gene variant functions in the cell and see if it can be targeted, to see if there are any benefits to finding out how this gene operates in both normal and diseased cells. If we can do this, we may be able eventually to correct the defect with drug therapy. Here in Nottingham we will keep looking for more rare gene variations.

"Even if we could eventually slow or halt the progress of the disease with new drugs rather than curing it completely, the benefits would be huge in terms of the real impact on patients' lives and also in vast savings to the health economy. The group The University of Nottingham has played a significant role in all of the recent AD genetics discoveries that have highlighted 20 new regions of interest in the genome in the last five years and we will continue to do so into the future."

More information regarding the study can be found via the journal Nature.