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Researchers are investigating new treatment possibilities for Alzheimer’s disease after an individual at high risk for early-onset Alzheimer’s disease remained dementia-free for years beyond what was anticipated. The woman — carrying a gene mutation known to cause early-onset Alzheimer’s — did not develop signs of the disease until her seventies, 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鈥檚 in her family, she also had two copies of the APOE3 Christchurch (APOE3ch) gene variant. Findings of this case study, published in , suggest that two copies of the APOE3ch variant 鈥� named after Christchurch, New Zealand, where it was first identified 鈥� may protect against Alzheimer鈥檚.

The study 鈥� funded by the (NIA) and the 鈥� suggests that a gene variant may be the key to developing an effective treatment.

鈥淪ometimes close analysis of a single case can lead to discovery that could have broad implications for the field,鈥� NIA Director Richard J Hodes said.

鈥淲e are encouraged that as part of our wide array of studies, this research in the unique genetic make-up of an exceptional individual can reveal helpful information.鈥�

Early-onset Alzheimer鈥檚 disease is rare, representing less than 10% of all people who have Alzheimer鈥檚. It typically occurs between a person鈥檚 30s to mid-60s. Risk for both early- and late-onset Alzheimer鈥檚 disease is affected by genetic factors.

Researchers led by investigators at Massachusetts General 黑料吃瓜群网 鈥� in collaboration with the University of Antioquia, Schepens Eye Research Institute of Massachusetts Eye and Ear, and Banner Alzheimer鈥檚 Institute聽鈥� looked at genetic data from a Colombian family with more than 6000 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鈥檚 disease.

The researchers confirmed that the woman in this case carried the PSEN1 E280A mutation, which caused early-onset Alzheimer鈥檚 in her other family members. However, she also had two copies of the APOE3ch gene variant, while no other affected family member carried two copies of this variant. Affected family members developed Alzheimer鈥檚 in their 40s, but she remained disease-free until her 70s.

Imaging tests showed that the woman had only minor neurodegeneration. She did have large amounts of amyloid protein deposits, a hallmark of Alzheimer鈥檚 disease, in her brain, but the amount of tau tangles, another hallmark of the disease, and the one more correlated with how thinking and memory are affected, was relatively low.

Experiments as part of the study showed that the APOE3ch variant may reduce the ability of APOE to bind to certain sugars called heparan sulfate proteoglycans (HSPG). APOE binding to HSPG has been implicated as one mechanism that may contribute to the amyloid and tau protein deposits that destroy the brain.

The research suggests that a drug or gene therapy that could reduce APOE and HSPG binding has the potential to be a new way to treat or prevent Alzheimer鈥檚 disease.

Image credit: 漏stock.adobe.com/au/Siarhei