Unique case of disease resistance reveals possible Alzheimer’s treatment

Defying the odds, an individual at high risk for early-onset Alzheimer’s disease remained dementia-free for many years beyond what was anticipated. A study funded in part by the National Institute on Aging (NIA), part of the National Institutes of Health (NIH), led researchers to suggest that a gene variant may be the key, perhaps providing a new direction toward developing a treatment. The research focused on the case of a woman who carried a gene mutation known to cause early-onset Alzheimer’s. However, she did not develop signs of the disease until her 70s, nearly three decades after her expected age of onset. The researchers suspect that she may have been protected because in addition to the gene mutation causing early-onset Alzheimer’s in her family, she also had two copies of the APOE3 Christchurch (APOE3ch) gene variant. Findings of this case study as published in Nature Medicine suggest that two copies of the APOE3ch variant, named after Christchurch, New Zealand where it was first identified, may protect against Alzheimer’s. “Sometimes close analysis of a single case can lead to discovery that could have broad implications for the field,” said NIA director Richard J. Hodes, M.D. “We are encouraged that as part of our wide array of studies, this research in the unique genetic makeup of an exceptional individual can reveal helpful information.” Early-onset Alzheimer’s disease is rare, representing less than 10% of all people who have Alzheimer’s. It typically occurs between a person’s 30s to mid-60s. Risk for both early- and late-onset Alzheimer’s disease is affected by genetic factors. For the study, researchers led by investigators at Massachusetts General Hospital, Boston, in collaboration with the University of Antioquia, Medellin, Colombia, Schepens Eye Research Institute of Massachusetts Eye and Ear, Boston, and Banner Alzheimer’s Institute, Phoenix, looked at genetic data from a Colombian family with more than 6,000 living members. Family members who carry a rare gene mutation called Presenilin 1 (PSEN1) E280A, have a 99.9% risk of developing early-onset Alzheimer’s disease.

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