The rare variant A673T in the amyloid-β precursor protein (APP) gene has been shown to reduce the risk of cognitive impairment. We genotyped the variant in 8721 Asian individuals comprising 552 with Alzheimer's disease and vascular dementia, 790 with Parkinson's disease, and 7379 controls. The A673T variant was absent in all of the subjects. Our finding suggests that the A673T protective variant is not relevant in our Asian population. Studies in other ethnic populations would clarify whether this variant is specific to specific races/ethnicities.
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| http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.012 | DOI Listing |
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The Icelandic Mutation (APP-A673T) Is Protective against Amyloid Pathology In Vivo.
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A previous epidemiological study in Northern Europe showed that the A673T mutation (Icelandic mutation) in the amyloid precursor protein gene () can protect against Alzheimer's disease (AD). While the effect of the A673T mutation on APP processing has been investigated primarily in vitro, its in vivo impact has not been evaluated. This is mainly because most existing AD mouse models carry the Swedish mutation.
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Article Synopsis
- * Researchers utilized mass spectrometry to analyze cerebrospinal fluid and plasma from both A673T carriers and non-carriers, revealing significant decreases in soluble APPβ and amyloid beta levels in carriers.
- * In cell culture studies, the A673T variant showed the potential to lower harmful proteins associated with Alzheimer's, suggesting its important role in mitigating AD-related pathology.
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