Researchers have identified 13 variants of genes associated with Alzheimer’s disease that are new to scientists. In a study published in Alzheimer’s and Dementia: The Journal of the Alzheimer’s Association, the researchers report how they sequenced entire genomes of humans in more than 600 families with individuals diagnosed with Alzheimer’s and searching for rare versions of genes.
The team finally evaluated 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 takes us to the next stage of disease gene discovery by enabling us to look at the whole range of the human genome and evaluate the rare genomic variants, which we have not been able to do before, says Dmitry Prokopenko of Massachusetts General Hospital. McCance Center for Brain Health, co-author of the study, in a Press release.
The identification of rare versions of genes can contribute important information about the biology of the disease, says Rudolph Tanzi, who is vice president of neurology and director of the research unit for genetics and aging in the hospital and the last author of the article, in the press release . Researchers can, for example, start studying the animal variants in animal models to see how they specifically affect brain function. Scientists can also start thinking about how to determine the risk of developing Alzheimer’s once they know more about how common these gene variants are in the general population.
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Finding the rarer gene variants can be medically as well as scientifically important. “With this study, we believe we’ve created a new template to go beyond the standard GWAS and the association of diseases with common genomic variants, in which you miss much of the genetic landscape of the disease,” says Tanzi.
Although there is no specific gene responsible for Alzheimer’s disease, researchers are learning more about which genetic variations and combinations can lead to increased risk. This study brings scientists closer to a better understanding of what it 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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