New gene breakthrough brings early Alzheimer`s diagnoses closer to reality

Washington: A team of researchers have uncovered a second rare genetic mutation which strongly increases the risk of Alzheimer's disease in later life.

In an international collaboration, the University of Nottingham's Translational Cell Sciences Human Genetics research group has pinpointed a rare coding variation in the Phospholipase D3 (PLD3) gene which is more common in people with late-onset Alzheimer's than non-sufferers.

The discovery is an important milestone on the road to early diagnosis of the disease and eventual improved treatment.

Having surveyed the human genome for common variants associated with Alzheimer's, geneticists are now turning the spotlight on rare mutations which may be even stronger risk factors.

The study is published in journal Nature.