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Alzheimer's Gene Study Questioned The journal Science published an investigation by Charles Piller and Jenny Erin Smith on August 13, examining rare gene variants in a large Colombian family. The inherited PSEN1 E280A mutation typically causes mild cognitive impairment around 44 years of age in its carriers. However, two cases with much later disease onset suggested other genes as potential treatment targets. A 2019 article described a woman with PSEN1 E280A who preserved cognitive function until 70 years of age. She was found to have two copies of the rare APOE3 Christchurch variant. Imaging showed high amyloid burden, characteristic of Alzheimer's disease, and relatively little tau deposition, another protein associated with its development. This unusual case led to the hypothesis that the APOE variant might be delaying symptom onset. A 2023 study added a man from the same family, who preserved cognitive abilities until 67 years of age and was diagnosed with mild cognitive impairment at 70. The investigation by Science raises questions about data changes and suspicious or copied images in several articles. The Colombian research group GNA responded that questions about images concern a limited part of the publications and do not affect the authenticity of the original data, quantitative analyses, and scientific conclusions of these works. An independent analysis should verify the genotypes, age of symptom onset, and patient selection rules in the cohort. After such verification, cellular experiments can explain how the candidate acts in the protein and cell before relying on it for treatment development, as reported in Science, August 2023. 🔗 Read original →