It should also motivate the field to push further into treatments that specifically target the protein encoded by this gene.
Many will recall movie star Chris Hemsworth’s 2022 revelation that he carried two copies of the gene, news that reportedly prompted him to approach his life with a bit more intention.
Using two datasets that encompass over 10,000 patients and over 3,000 brain donors, the researchers show that people with two copies of the gene will almost inevitably develop biological signs of the disease.
Some 95 per cent had build-up of a protein called amyloid, a hallmark of Alzheimer’s disease, in their brains and spinal fluid by the time they are 65.
For that reason, the authors argue, it should be considered a distinct genetic form of the disease.
In a new paper in Nature Medicine, an international team of neurologists makes the compelling case that people with two copies of a gene called APOE4 aren’t just at risk of Alzheimer’s — they have a distinct form of the disease and are almost certain to develop its telltale brain plaques by age 65.
The finding comes with caveats, but still has near-term implications for studying, diagnosing and treating the disease — especially given the advent of drugs like Leqembi, made by Eisai and Biogen, and donanemab, made by Eli Lilly & Co. It should also motivate the field to push further into treatments that specifically target the protein encoded by this gene.
It also raises a critical question for the public: Should more of us know whether we are carriers of these genes?
Researchers have known for decades that people who harbor APOE4 have a higher risk of developing the neurological condition. One copy raises the chances of getting the disease as much as threefold, while two copies increases the risk by a factor of 10 or more. Many will recall movie star Chris Hemsworth’s 2022 revelation that he carried two copies of the gene, news that reportedly prompted him to approach his life with a bit more intention.
This new study puts a finer point on that risk. Using two datasets that encompass over 10,000 patients and over 3,000 brain donors, the researchers show that people with two copies of the gene will almost inevitably develop biological signs of the disease. Some 95 per cent had build-up of a protein called amyloid, a hallmark of Alzheimer’s disease, in their brains and spinal fluid by the time they are 65. For that reason, the authors argue, it should be considered a distinct genetic form of the disease.
