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 presentationPSEN2 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.
Author: Young Chul YounEva BagyinszkyHyeRyoun KimByung-Ok ChoiSeong Soo AnSangYun Kim
Credits/Source: BMC Neurology 2014, 14:105
Published on: 2014-05-15
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