Brain scan + genome screening IDs Alzheimer’s risk gene

Researchers at the University of California, Los Angeles (UCLA) paired high-field diffusion MRI with genomic screening to pinpoint an Alzheimer’s disease risk gene, according to research published online March 4 in Proceedings of the National Academy of Sciences. The findings could provide a path to new treatments, according to the authors.

Paul Thompson, PhD, professor of neurology and psychology at UCLA, and colleagues first screened more than 1,000 person’s DNA to find errors in the genetic code that might increase risk for Alzheimer’s disease later in life.

Each subject also underwent a genome-wide association scan, or “connectome scan,” that measures water diffusion in the brain to allow scientists to map the strength of the brain’s connections, according to a press release.

The researchers combined the connectome scans with genetic screening to determine what causes faulty wiring in the brain. Thompson and colleagues found that people with differences in the SPON1 gene had weaker connections between areas of the brain controlling reasoning and emotion. SPON1 also affects how amyloid plaque builds up in the brain.

“Much of your risk for disease is written in your DNA, so the genome is a good place to look for new drug targets,” Thompson said in the release. Research has suggested that manipulating the SPON1 gene may lead to new treatments. When the gene was altered in mice, it led to cognitive improvements and less amyloid plaque in the brain.

The combined model of genomic screening and imaging scans may be a faster and more efficient way to screen genomes, the researchers concluded.