-
-
J Korean Neurol Assoc. 2002;20(6):641-651.
- "Apolipoprotein E Gene and Alpha 1-Antichymotrypsin Gene
in Brain of Sporadic Alzheimer s Disease"
-
Sang-Ho Kim, M.D.
-
"Department of Pathology, College of Medicine, The Catholic University of Korea
Department of Neurology, College of Medicine, The Catholic University of Korea"
- "산발형 알쯔하이머병 환자의 뇌 조직에서
Apolipoprotein E 유전자와
Alpha 1-antichymotrypsin 유전자 검사"
-
김상호, 한서영 최영숙 이광수
-
가톨릭대학교 의과대학 병리학교실,신경과학교실
- Abstract
- "Background : This study aims to detect any causative genetic alterations and to demonstrate any correlations of these
genes in the pathogenesis of mostly late-occurring sporadic type of Alzheimer s disease (AD). Methods : A total of 67
registered cases of autopsy-confirmed brain tissues were analyzed. Included here was sporadic AD (n=41), vascular
dementia (n=17), and non-demented physiologically aging control brains (n=9). ApoE genotyping was done with the
enzymatic digestion, and allele specific PCR was done to analyze the -491 A/T polymorphism of ApoE. Detection of
polymorphism of alpha 2-macroglobulin (A2M) was done with enzymatic digestion and DNA sequencing. RT-PCR
products were electrophoresed to detect mRNA expression of alpha 1-antichymotrypsin (ACT). Results : A prevalence
rate of ApoE E4 genotype (E3/E4, E4/E4) showed significantly higher in patients with AD than in patients with vascular
dementia (43.8% vs. 11.7%, p=0.019). Only 1 out of 4 cases of sporadic AD was associated with the E4/E4 allele. -491A/
T polymorphism of the ApoE promoter was found only in AD (2/41 cases, 4.9%). The incidence of heterozygous
allelic polymorphism with 5 bp deletions in exon 18 of A2M-2 was 4.9% (2 out of 41) in AD. Messenger RNA expres-sion
of ACT, which is closely associated with the ApoE E4 allele, was increased in AD in comparison with normal con-trol
(p=0.0002). Conclusions : ApoE4 genotype and ACT are closely related to the pathogenesis of late-onset sporadic
AD. Neither -491 polymorphism of ApoE promoter nor A2M-2 showed close association with AD in these brain sam-ples.Key Words : Alzheimer s disease, Polymorphism, Apolipoprotein E, Alpha 1-antichymotrypsin, Alpha 2-macroglobulin"
Keywords :
- 초록
-
