Researchers have identified 13 variants of genes connected to Alzheimer’s disease that are new to scientists. In a study published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association, the researchers report how they sequenced whole genomes of people in more than 600 families with individuals who have been diagnosed with Alzheimer’s and searched for rare versions of genes.
The team ended up sequencing the genomes of 2,247 people in a genome-wide association study (GWAS). Among the results, they found the 13 previously unknown rare gene variants. These genes are associated with synapse function, neural development and neuroplasticity.
“This paper brings us to the next stage of disease-gene discovery by allowing us to look at the entire sequence of the human genome and assess the rare genomic variants, which we couldn’t do before,” says Dmitry Prokopenko of Massachusetts General Hospital’s McCance Center for Brain Health, who is lead author of the study, in a press release.
Identifying rare versions of genes can contribute important information about the biology of the disease, says Rudolph Tanzi, who is vice chair of Neurology and director of the hospital’s Genetics and Aging Research Unit and last author on the paper, in the press release. For example, researchers can start studying the gene variants in animal models to see how it specifically affects brain function. Scientists can also start thinking about how to assess the risk for developing Alzheimer’s once they know more about how prevalent these gene variants are in the general population.
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Finding the rarer gene variants could prove to be important medically as well as scientifically. “With this study, we believe we have created a new template for going beyond standard GWAS and association of disease with common genome variants, in which you miss much of the genetic landscape of the disease,” says Tanzi.
While there is no one specific gene that is responsible for Alzheimer’s disease, researchers are learning more about what genetic variations and combinations may lead to increased risk. This study brings the scientists closer to getting a fuller understanding of what that means by identifying more possibilities. Tanzi says in the press release, “Rare gene variants are the dark matter of the human genome.”
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