期刊
BMC NEUROLOGY
卷 14, 期 -, 页码 -出版社
BMC
DOI: 10.1186/1471-2377-14-105
关键词
Alzheimer's disease; Presenilin 2 mutation; Presenilin 2 protein structure; Novel mutation; Structural prediction
资金
- Korea Healthcare technology RD Project
- Ministry of Health and Welfare, Republic of Korea [HI10C2020]
- National Research Foundation of Korea (NRF) - Korea government (MEST) [2010-0024004]
- National Research Foundation of Korea [2010-0024004] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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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