Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural predictionopen access
- Authors
- Youn, Young Chul; Bagyinszky, Eva; Kim, HyeRyoun; Choi, Byung-Ok; An, Seong Soo; Kim, Sang Yun
- Issue Date
- May-2014
- Publisher
- BIOMED CENTRAL LTD
- Keywords
- Alzheimer's disease; Presenilin 2 mutation; Presenilin 2 protein structure; Novel mutation; Structural prediction
- Citation
- BMC NEUROLOGY, v.14, no.1
- Journal Title
- BMC NEUROLOGY
- Volume
- 14
- Number
- 1
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/12230
- DOI
- 10.1186/1471-2377-14-105
- ISSN
- 1471-2377
1471-2377
- Abstract
- 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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