Alzheimer's Disease Linked to Loss of Epigenetic Protection

An international team of researchers has linked a gene known as peptidase M20-domain-containing protein 1 ( PM20D1 ) with Alzheimer’s disease (AD) in humans. An analysis of genetic and epigenetic study data, combined with data from human tissue samples and subsequent experiments in mouse models, indicated that increased levels of PM20D1 in the brain have a protective effect against AD. Genetically boosting PM20D1 expression in AD mice reduced AD-related pathologies, whereas genetically depleting PM20D1 promoted disease progression.

The collaborating teams in Switzerland and Spain claim their findings suggest that in a particular genetic background PM20D1 contributes to neuroprotection against AD. “This variation is associated with the loss of activity of a neuroprotective gene called PM20D1 ; whoever possesses the variation has a greater probability of suffering from AD, so people carrying these variants could be excellent candidates for clinical prevention trials of the disease in the future,” comments ...