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expert reaction to a case study of a women with a mutation which is possibly protective against Alzheimer’s disease

Research, published in Nature Medicine, reports that the APOE3 genetic mutation may be protective against Alzheimer’s disease.


Prof Tara Spires-Jones, UK Dementia Research Institute Programme Lead and Deputy Director, Centre for Discovery Brain Sciences, University of Edinburgh, said:

“Dr Arboleda-Velasquez and colleagues report a variant in the APOE gene that may have helped delay the onset of dementia symptoms in a person who inherited a gene that causes familial Alzheimer’s disease. As the authors point out, this study of a single person is not sufficient to be certain that the APOE variant was the protective factor.  At this stage I would say this is a potential protective gene that will certainly launch exciting new research but needs much more work to confirm.”


Prof John Hardy, Professor of Neuroscience, University College London (UCL), said:

“It is interesting that a person with this rare APOE variant has stayed well longer than would be predicted because of her presenilin mutation.  And it is to be hoped that this spurs research into therapies using APOE because this is a neglected research area.  It is, however, a single case report and it is prudent to be cautious about over interpreting single patient’s data.”


Dr Fiona Carragher, Chief Policy and Research Officer, Alzheimer’s Society, said:

“This is a rare example where the study of just one person could change the thinking of a whole research field. This woman should have developed Alzheimer’s in her 40’s, but despite a really high number of amyloid plaques in her brain, she has reached 70 and is still living dementia free.

“The researchers identified a gene mutation that has protected against the brain cell damage that usually follows amyloid plaques, giving greater insight into the biological mechanisms at play in Alzheimer’s disease. In the 1990’s Alzheimer’s Society was part of a pivotal genetic discovery for the first Alzheimer’s gene, which paved the way for anti-amyloid drugs like the one recently announced by Biogen.

“This breakthrough opens up a new and promising avenue of Alzheimer’s research although further studies with larger numbers are needed. We need to understand more about how this protective gene mutation is working to make the brain more resilient to amyloid plaques, but the hope is that this exciting scientific advance could lead to new treatments and take us a step closer towards a cure for dementia.”


‘Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report’ by Arboleda-Velasquez et al. was published in Nature Medicine at 16:00 UK time on Monday 4th November. 

DOI: 10.1038/s41591-019-0611-3


Declared interests

Prof Tara Spires-Jones: “I have no conflicts with this paper.”

Prof John Hardy: “There is a companion paper on biorxiv for which I am a middle author.”

None others received.

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