편정민 교수
Jung-Min Pyun
서울대학교 · 의학
연구실 소개
편정민 교수의 연구실은 알츠하이머병의 조기 진단과 진행 양상 예측을 중심으로, 유전적 소인(다유전자위험점수), 생체막대체물질(예: 혈중 Aβ 올리고머), 신경생물학적 생체지표 및 신경심리학적 검사 결과를 통합적으로 분석합니다. 특히 APOE 유전자형에 따른 예측 정확도 향상, 혈액 생체지표와 인지기능 간의 연관성, 그리고 경도 인지장애 환자에서의 운전 중단 예측 요인 등 임상적 실용성을 고려한 연구를 지속하고 있습니다. 이는 조기 간병성 질환의 선제적 관리 및 개인 맞춤형 치료 전략 수립에 기여하고자 합니다.
연구 현황
연구 성과 추이
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주요 논문
15Abstract Background The combinatorial effect of multiple genetic factors calculated as a polygenic risk score (PRS) has been studied to predict disease progression to Alzheimer’s disease (AD) from mild cognitive impairment (MCI). Previous studies have investigated the performance of PRS in the prediction of disease progression to AD by including and excluding single nucleotide polymorphisms within the region surrounding the APOE gene. These studies may have missed the APOE genotype-specific pred
The Aβ oligomerization tendency in plasma could predict amyloid PET positivity with high performance, and, when it is combined with age, MMSE score, and APOE ε4 status, predictability was improved substantially. This suggests the potential of MDS-OAβ as a useful initial stage test in the clinical and research fields of AD.
Although driving by adults with cognitive impairment is an important public health concern, little is known about the indicators of driving cessation in patients with mild cognitive impairment (MCI). We aimed to investigate the prevalence of driving cessation in patients with MCI and the predictive value of cognitive performances for driving cessation. Patients with MCI were recruited in the Seoul National University Bundang Hospital; they met following inclusion criteria. Age range of 51⁻80 yea
High plasma fibrinogen levels were associated with poor performance in attention in patients with MCI, regardless of APOE genotype or vascular risk factors.
ChEI use or non-use was not related to cognitive change at a 1-year follow-up visit in patients with or without amyloid burden. In addition, ChEI use or non-use could not predict disease progression to CDR 1 at 1-year follow-up visit.
There was no difference in cognitive profile between euthyroid and sHypo patients, and no association between subclinical hypothyroidism and disease progression. This might suggest a clue of strategies regarding hormone therapy in subclinical hypothyroidism with cognitive impairment.
Background:Sundown syndrome (SS) in patients with Alzheimer’s disease (AD) is characterized by aggravation of behavioral problems at sunset. Disturbance of the circadian rhythm, a possible cause of SS, also facilitates amyloidopathy and reduces sleep quality. However, the associations of SS with am yloidopathy and sleep quality remain unclear. Objective:To investigate the prevalence of SS in patients with AD, the association between SS and APOE ɛ4 carrier, representing an enhanced amyloid pathol
Amyloid-β (Aβ) is a key protein in Alzheimer's disease (AD) in that its accumulation induces complex pathological changes. Although there has been extensive research on the metabolism of Aβ in AD, new compelling results have recently emerged. Historically, the production and clearance of Aβ have been thought to originate in the central nervous system (CNS). However, recent evidence suggests that the production and clearance of Aβ can also occur in the peripheral system, and that the peripherally
Transcriptional risk score (TRS) is developed using brain RNA-Seq data. Higher TRS values are shown in Alzheimer's disease (AD). TRS improves the AD classification power of PRS up to 16%. TRS is associated with AD pathology presence. TRS is associated with worse cognitive performance and faster cognitive decline.
A systematic interpretation strategy could support accurate diagnosis and staging of AD. Moreover, comprehensive use of biomarkers that target amyloidopathy such as amyloid PET on brain amyloid plaque and MDS-OAβ on amyloid-β oligomerization tendency can complement to gain advanced insights on amyloid-β dynamics in AD.
<i>IFITM3</i> is significantly associated with cognitive performance.rs10751647 in <i>IFITM3</i> is associated with cognitive decline rates with replication.rs10751647 is associated with amyloid beta load, cerebrospinal fluid phosphorylated tau levels, and brain atrophy.rs10751647 is associated with <i>IFITM3</i> expression levels in blood and brain.rs10751647 in <i>IFITM3</i> is related to less vulnerability to Alzheimer's disease pathogenesis.
Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As 'idiopathic cerebellar ataxia' was suspected, diagnostic tests, including
Various plasma biomarkers for amyloid-β (Aβ) have shown high predictability of amyloid PET positivity. However, the characteristics of discordance between amyloid PET and plasma Aβ42/40 positivity are poorly understood. Thorough interpretation of discordant cases is vital as Aβ plasma biomarker is imminent to integrate into clinical guidelines. We aimed to determine the characteristics of discordant groups between amyloid PET and plasma Aβ42/40 positivity, and inter-assays variability depending
Depressive symptoms at baseline were related to a higher probability of a cognitive improvement at one-year follow-up. In addition, immediate and delayed verbal memory function showed significant improvement during one year in improved patients compared to non-improved patients.
The association between ChEI use and accelerated cognitive decline may stem from underlying pathologies involving reduced hippocampal volume, entorhinal cortical thickness and faster frontal lobe atrophy. We suggest that ChEI use in amyloid PET-negative MCI patients might need further consideration, and studies investigating the causality between ChEI use and cognitive decline are warranted in the future.
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