Alzheimer's: New Gene May Drive Earliest Brain Changes

A study in JAMA Neurology suggests that a just-discovered Alzheimer's gene, RBFOX1, may induce the first appearance of amyloid plaques in the brain, reports Medical Xpress . Certain RBFOX1 variants apparently increase the amount of protein fragments constituting these plaques, and may play a role in the deterioration of critical connections between neurons. The researchers explored the genomes of nearly 4,300 asymptomatic people whose positron-emission tomography images revealed amyloid deposits in the brain. Genetic analysis found a link between the manifestation of these deposits and GPOE, a known Alzheimer's gene, and RBFOX1. About 10 percent of study subjects had RBFOX1 variants associated with the emergence of amyloid deposition. Fewer amounts of RBFOX1 in the brain appeared to have a connection with increased amyloid and global cognitive decline. "By studying people with the earliest signs of Alzheimer's, we can find genes that are unequivocally related to the start of disease," said Columbia University's Richard Mayeux. "And these genes are more likely to lead to therapies that can prevent the disease from developing."