Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis

被引：9

作者：

Funayama, Manabu ^{[2
]}

Tomiyama, Hiroyuki

Wu, Ruey-Meei ^{[3
]}

Ogaki, Kotaro

Yoshino, Hiroyo

Mizuno, Yoshikuni ^{[2
]}

Hattori, Nobutaka ^{[1
,2
]}

机构：

[1] Juntendo Univ, Dept Neurol, Sch Med, Bunkyo Ku, Tokyo 1138421, Japan

[2] Juntendo Univ, Grad Sch Med, Res Inst Dis Old Age, Tokyo 1138421, Japan

[3] Natl Taiwan Univ, Coll Med, Natl Taiwan Univ Hosp, Dept Neurol, Taipei 10764, Taiwan

来源：

MOVEMENT DISORDERS | 2010年 / 25卷 / 14期

关键词：

Parkinson's disease; gene risk factor; PARK9; lightscanner; PARKINSONS-DISEASE; ALPHA-SYNUCLEIN; JUVENILE PARKINSONISM; MUTATION ANALYSIS; RISK-FACTOR; GENE; SUSCEPTIBILITY; TAIWAN; ONSET;

D O I：

10.1002/mds.23106

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. (C) 2010 Movement Disorder Society

引用

页码：2434 / 2437

页数：4

共 19 条

[1] Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews [J].

Aharon-Peretz, J ;

Rosenbaum, H ;

Gershoni-Baruch, R .

NEW ENGLAND JOURNAL OF MEDICINE, 2004, 351 (19) :1972-1977

[2] ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease [J].

Di Fonzo, A. ;

Chien, H. F. ;

Socal, M. ;

Giraudo, S. ;

Tassorelli, C. ;

Iliceto, G. ;

Fabbrini, G. ;

Marconi, R. ;

Fincati, E. ;

Abbruzzese, G. ;

Marini, P. ;

Squitieri, F. ;

Horstink, M. W. ;

Montagna, P. ;

Dalla Libera, A. ;

Stocchi, F. ;

Goldwurm, S. ;

Ferreira, J. J. ;

Meco, G. ;

Martignoni, E. ;

Lopiano, L. ;

Jardim, L. B. ;

Oostra, B. A. ;

Barbosa, E. R. ;

Bonifati, V. .

NEUROLOGY, 2007, 68 (19) :1557-1562

[3] A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan [J].

Di Fonzo, Alessio ;

Wu-Chou, Yah-Huei ;

Lu, Chin-Song ;

van Doeselaar, Marina ;

Simons, Erik J. ;

Rohe, Christan F. ;

Chang, Hsiu-Chen ;

Chen, Rou-Shayn ;

Weng, Yi-Hsin ;

Vanacore, Nicola ;

Breedveld, Guido J. ;

Oostra, Ben A. ;

Bonifati, Vincenzo .

NEUROGENETICS, 2006, 7 (03) :133-138

[4] Leucine-Rich Repeat kinase 2 G238SR variant is a risk factor for Parkinson disease in Asian population [J].

Funayama, Manabu ;

Li, Yuanzhe ;

Tomiyama, Hiroyuki ;

Yoshino, Hiroyo ;

Imamichi, Yoko ;

Yamamoto, Mitsutoshi ;

Murata, Miho ;

Toda, Tatsushi ;

Mizuno, Yoshikuni ;

Hattori, Nobutaka .

NEUROREPORT, 2007, 18 (03) :273-275

[5] ACCURACY OF CLINICAL-DIAGNOSIS OF IDIOPATHIC PARKINSONS-DISEASE - A CLINICOPATHOLOGICAL STUDY OF 100 CASES [J].

HUGHES, AJ ;

DANIEL, SE ;

KILFORD, L ;

LEES, AJ .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1992, 55 (03) :181-184

[6] Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].

Kitada, T ;

Asakawa, S ;

Hattori, N ;

Matsumine, H ;

Yamamura, Y ;

Minoshima, S ;

Yokochi, M ;

Mizuno, Y ;

Shimizu, N .

NATURE, 1998, 392 (6676) :605-608

[7] Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease [J].

Kumazawa, Ryuya ;

Tomiyama, Hiroyuki ;

Li, Yuanzhe ;

Imamichi, Yoko ;

Funayama, Manabu ;

Yoshino, Hiroyo ;

Yokochi, Fusako ;

Fukusako, Toshihiro ;

Takehisa, Yasushi ;

Kashihara, Kenichi ;

Kondo, Tomoyoshi ;

Elibol, Bulent ;

Bostantjopoulou, Sevasti ;

Toda, Tatsushi ;

Takahashi, Hirohide ;

Yoshii, Fumihito ;

Mizuno, Yoshikuni ;

Hattori, Nobutaka .

ARCHIVES OF NEUROLOGY, 2008, 65 (06) :802-808

[8] Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore [J].

Lin, C. H. ;

Tan, E. K. ;

Chen, M. L. ;

Tan, L. C. ;

Lim, H. Q. ;

Chen, G. S. ;

Wu, R. M. .

NEUROLOGY, 2008, 71 (21) :1727-1732

[9] Multiple candidate gene analysis identifies α-synuclein as a susceptibility gene for sporadic Parkinson's disease [J].

Mizuta, I ;

Satake, W ;

Nakabayashi, Y ;

Ito, C ;

Suzuki, S ;

Momose, Y ;

Nagai, Y ;

Oka, A ;

Inoko, H ;

Fukae, J ;

Saito, Y ;

Sawabe, M ;

Murayama, S ;

Yamamoto, M ;

Hattori, N ;

Murata, M ;

Toda, T .

HUMAN MOLECULAR GENETICS, 2006, 15 (07) :1151-1158

[10] Multiple regions of α-synuclein are associated with Parkinson's disease [J].

Mueller, JC ;

Fuchs, J ;

Hofer, A ;

Zimprich, A ;

Lichtner, P ;

Illig, T ;

Berg, D ;

Wüllner, U ;

Meitinger, T ;

Gasser, T .

ANNALS OF NEUROLOGY, 2005, 57 (04) :535-541

← 1 2 →