Key gene variant found to reduce risk of disorder
A mutation has been found that protects people who are genetically predisposed to Alzheimer’s disease.
The mutation was identified by analyzing massive genetic datasets in an international collaboration of scientists led by Michael Greicius, MD, the Stanford School of Medicine Iqbal Farrukh and Asad Jamal Professor of neurology. Called the R251G variant, the mutation brings about a change in the makeup of a protein known as apolipoprotein E, or APOE — which is implicated in Alzheimer’s.
“If we, as a field, can figure out exactly how the R251G mutation reduces risk, then maybe we can come up with a small molecule drug that gets into the brain and mimics what R251G is doing,” said Greicius, senior author of the research published in May 2022 in JAMA Neurology.
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