A case of possibly pathogenic PSEN2 R62C mutation in a patient withprobable early-onset Alzheimer's dementia supported by structureprediction
- Collection with item attached
-
2017
- Item details URL
-
http://open-repository.kisti.re.kr/cube/handle/open_repository/473486.do
- DOI
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10.2147/CIA.S128884
- Title
- A case of possibly pathogenic PSEN2 R62C mutation in a patient withprobable early-onset Alzheimer's dementia supported by structureprediction
- Description
- This work was supported by grants from the Korea Health Technology R&DProject (HI14C3331) through the Korea Health Industry DevelopmentInstitute (KHIDI), Korea Ministry of Health and Welfare.
- abstract
- A 49-year-old Korean male patient with dementia was diagnosed with probable early-onset Alzheimer's disease (AD). He presented with memory problems, personality changes, and disorientation. His family history of dementia was probably negative, since no family member with dementia was found or mentioned. Mild cortical atrophy was observed upon magnetic resonance imaging analyses of his brain, and the single-photon emission computed tomography analysis revealed hypoperfusion in the frontal, temporal, and limbic lobes. The patient was tested for mutations in APP, PSEN1, PSEN2, PGRN, MAPT, and PRNP genes. Genetic analysis revealed R62C mutation in PSEN2 gene. PSEN2 R62C mutation was previously reported in European populations, including Dutch and Belgian families with AD. Herein, we present the first case report of PSEN2 R62C mutation in Asia. PolyPhen-2 and SIFT software analyses predicted this mutation as "possibly damaging", suggesting its potential involvement with AD. In silico protein structural prediction analyses of PSEN2 R62 and C62 revealed two divergent structures, suggesting that large perturbations of R62C mutation might cause dysfunctions of PSEN2, which may alter the normal amyloid production.
- provenance
- Made available in Cube on 2018-09-28T10:20:53Z (GMT). No. of bitstreams: 0
- language
- English
- author
- Park, Kyung Won
- An, Seong Soo
- Bagyinszky, Eva
- Kim, SangYun
- accessioned
- 2018-09-28T10:20:53Z
- available
- 2018-09-28T10:20:53Z
- issued
- 2017
- citation
- CLINICAL INTERVENTIONS IN AGING(12)
- issn
- 1178-1998
- uri
- http://open-repository.kisti.re.kr/cube/handle/open_repository/473486.do
- Funder
- 보건복지부
- Funding Program
- 질환극복기술개발
- Project ID
- 1465021930
- Jurisdiction
- Rep.of Korea
- Project Name
- Clinical study for Alzheimer's disease prediction
- rights
- openAccess
- subject
- Alzheimer's disease
- PSEN2 mutation
- dementia
- PET
- MRI
- presenilin-2
- type
- article
- Files in This Item
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