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
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


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