The researchers identified 13 variants of genes linked to 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 people in more than 600 families with individuals who were 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 rare gene variants hitherto unknown. These genes are associated with synaptic function, neural development and neuroplasticity.
“This article takes us to the next stage of discovering the disease gene, allowing us to look at the entire human genome sequence and evaluate rare genomic variants, which we couldn’t do before,” says Dmitry Prokopenko, of Massachusetts General Hospital’s McCance Center for Brain Health, who is the 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, vice president of neurology and director of the hospital’s Genetics and Aging Research Unit and the last author of the article, in a press release. For example, researchers can start studying gene variants in animal models to see how it specifically affects brain function. Scientists can also start thinking about how to assess the risk of developing Alzheimer’s, once they know more about the prevalence of these genetic variants in the general population.
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Finding the rarest genetic variants can be both medically and scientifically important. “With this study, we believe we have created a new model to go beyond the standard GWAS and association of the disease with common variants of the genome, in which you lose a lot of the genetic panorama of the disease”, says Tanzi.
Although there is no specific gene responsible for Alzheimer’s disease, researchers are learning more about which variations and genetic combinations can lead to increased risk. This study brings scientists closer to gaining a more complete understanding of what this means, by identifying more possibilities. Tanzi says in the press release: “Rare variants of genes are the dark matter of the human genome”.
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