UAB study targets gene associated with Alzheimer’s disease

Sept. 8, 2020

Researchers at the University of Alabama at Birmingham (UAB) are on the track of a gene that might play a role in the development of Alzheimer’s disease, according to a press release from UAB. The research team is studying a gene called BIN1, which was first linked to Alzheimer’s disease in 2009.

In a paper published online in eLife, the team shows that BIN1 helps to regulate the activity of neurons. This may be significant, as too much neuronal activity, known as hyperexcitability, is associated with Alzheimer’s disease. BIN1 becomes the first gene to be linked to hyperexcitability as a driver of Alzheimer’s disease. In the past, BIN1 was identified as a risk factor for Alzheimer’s following large scale studies called genome-wide association studies, which looked at the genomes of thousands of people with and without Alzheimer’s disease.

“These genetic studies showed that variants of BIN1 were present in many of the study participants who had Alzheimer’s,” said Erik Roberson, MD, PhD, the Rebecca Gale Professor in the Department of Neurology, School of Medicine, and lead author of the study. “The problem was that nobody had a clear idea what BIN1 does in the brain.”

Using different ways of increasing BIN1 and measuring neuronal activity, members of Roberson’s lab found that neurons with higher BIN1 levels fired more often and were more prone to hyperexcitability.

“We think that’s important because hyperexcitability is now recognized as a feature of early Alzheimer’s,” said Roberson, who is director of the UAB Alzheimer’s Disease Center and the Center for Neurodegeneration and Experimental Therapeutics. “The neurons fire too often, which appears to lead to damage.”

Prior studies had linked BIN1 to the Tau protein, which has long been associated with Alzheimer’s as one of the hallmarks of the disease.

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