Researchers have identified 13 genetic variants related to Alzheimer’s disease, which are new to scientists.Published in Alzheimer’s Disease: Journal of the Alzheimer’s Association, The researchers reported how they sequenced the entire human genome from more than 600 families who were diagnosed with Alzheimer’s disease and looked for rare gene versions.
The team eventually sequenced the genomes of 2,247 people in a genome-wide association study (GWAS). In the results, they found 13 previously unknown rare gene variants. These genes are related to synaptic function, neurodevelopment and neuroplasticity.
Dmitry Prokopenko of Massachusetts General Hospital said: “By allowing us to view the entire sequence of the human genome and evaluate rare genomic variants, we take it to the next stage of disease gene discovery.”
Rudolph Tanzi, vice chairman of neurology, director of the hospital’s genetics and aging research department, and the final author of the paper, said that identifying rare genes can provide important information for the biology of diseases. For example, researchers can start studying genetic variations in animal models to understand how they specifically affect brain function. Once they know the prevalence of these genetic variants in the general population, scientists can also begin to consider how to assess the risk of Alzheimer’s disease.
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The discovery of rare genetic variants may prove important in both medicine and science. Tanzi said: “Through this research, we believe that we have created a new template for surpassing the standard GWAS and the association of diseases with common genomic variants, in which you will miss many genetic backgrounds of the disease,” Tanzi said.
Although there is no specific gene responsible for Alzheimer’s disease, researchers are learning more about which genetic variants and combinations may lead to increased risk. This research brings scientists closer to what this means by discovering more possibilities. Tanzi said in a press release: “Rare genetic variants are the dark matter of the human genome.”
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