Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction

초록

Background: PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. Case presentation: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region. Conclusion: It could be a novel mutation verified with structural prediction in a patient with Alzheimer's disease.

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