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A Single-Nucleotide Polymorphism of PARK2 Affects the Phenotype in Sporadic Parkinson Disease


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タイトル: A Single-Nucleotide Polymorphism of PARK2 Affects the Phenotype in Sporadic Parkinson Disease
著者: Sakai, Muniko / Tsujino, Akira / Eguchi, Hiroto / Sato, Katsuya / Shirabe, Susumu / Tateishi, Yohei / Sato, Akira / Tsujihata, Mitsuhiro / Yoshimura, Toshiro / Eguchi, Katsumi
発行日: 2010年 3月
出版者: Nagasaki University School of Medicine
引用: Acta medica Nagasakiensia, 54(3), pp.67-71 ; 2010
抄録: Objective: Sporadic Parkinson's disease (PD) is thought to be a complex multifactorial, age-related neurodegenerative disease caused by theinteraction between genetic and environmental factors. Whether PARK2, a major responsible gene causing familial PD, affects to the diseasesusceptibility or the phenotypic variability in sporadic PD remains controversial. In this study, we perform the sequence analysis of PARK2 andassess the correlation between clinical features of sporadic PD patients and the detected variants. Materials and Methods: A total of 92 sporadicPD patients were sequenced and underwent the clinical examinations. MIBG scintigraphy was performed in 61 patients and the cardiacuptake was measured as the heart/mediastinum (H/M) ratio. Results: We only detected two novel variants (R51R, L272I) in 3 patients andthree common polymorphisms, S167N, V380L, and R366W, which had the allele frequencies of 38.6%, 7% and 0.5%, respectively. There wereno significant difference of the allele frequencies between patients and controls. On the evaluation of clinical features, the patients with S167Nhad the younger onsets of age and the tendency of preserved cardiac uptake of MIBG in the early Hoehn and Yahr (HY) stage compared tothe patients without S167N. Conclusions: These results suggest the common polymorphisms of PARK2 might affect the phenotype of sporadicPD without altered susceptibility to PD.
キーワード: PARK2 / Polymorphism / MIBG scintigraphy
URI: http://hdl.handle.net/10069/23120
ISSN: 0001-6055
関連リンク : http://joi.jlc.jst.go.jp/JST.JSTAGE/amn/54.67
資料タイプ: Departmental Bulletin Paper
原稿種類: publisher
出現コレクション:Volume 54, No. 3

引用URI : http://hdl.handle.net/10069/23120

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