A team of scientists in Alabama and California has found gene mutations that double the risk of Alzheimer’s disease, ALS, and frontotemporal dementia. The findings “can make a real difference” in early diagnosis and new treatments, scientists say.
The researchers collected DNA samples from more than 1,100 people in an effort led by the University of California at San Francisco. The sample is converted into a profile of each person’s genetic code using a technique called sequencing of the entire genome.
Scientists then use computers to look for differences in genetic codes. They found that people with degenerative brain disease were more likely to experience changes in a gene called TET2.
Then, the researchers looked at the DNA sequence of more than 32,000 healthy people and people with neurodegenerative diseases. They confirmed that the differences they saw in the first 1,100 genomes also existed in other people with Alzheimer’s disease, ALS, and frontotemporal dementia more often than healthy people.
Participating in research at Alabama is the HudsonAlpha Institute for Biotechnology, Huntsville and the University of Alabama at Birmingham. “We are excited that we found a new genetic association here,” said Nicholas Cochran, PhD, a senior scientist at the laboratory of Richard Myers, PhD, president and director of science at HudsonAlpha.
“This work would not be possible without grassroots support from local Huntsville donors,” Myers said. “Being able to do projects like this that address the causes of a variety of different neurodegenerative diseases can make a real difference in finding previous diagnoses and new treatments.”
The TET2 gene is the blueprint for a protein also called TET2, which scientists already know has a role in maintaining brain DNA. Researchers now think that the genetic changes they found could cause the TET2 protein that might “interfere with how the brain ages and contribute to the development of Alzheimer’s disease, ALS and frontotemporal dementia.
The research was funded in part by the Huntsville donor for the HudsonAlpha Foundation Memory and Mobility Program. It was also funded by the Rainwater Charitable Foundation, the Daniel Foundation of Alabama, the Larry L. Hillblom Foundation and the National Institutes of Health National Institute on Aging.
Jennifer Yokoyama, PhD, assistant professor of neurology at the University of California at San Francisco led the effort to collect DNA samples.
It was published in The American Journal of Human Genetics.
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