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In 3 affected members of a family with Alzheimer disease (AD3; 607822), Kauwe et al. (2007) identified a heterozygous C-to-T transition in exon 4 of the PSEN1 gene, resulting in an ala79-to-val (A79V) substitution. The patients had late-onset AD (greater than 75 years) that was confirmed at autopsy. An unaffected mutation carrier in the family was found to have increased CSF beta-amyloid-42, suggesting that this may be used as an endophenotype or marker for the disease. In vitro functional expression studies in mouse embryonic fibroblasts transfected with the A79V mutation showed increased beta-amyloid-42 compared to controls.

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