Examination of the MASH1 gene in patients with Parkinson's disease

被引：12

作者：

Deng, Hao ^{[1
,2
,3
]}

Yang, Huarong ^{[2
,3
]}

Le, Weidong ^{[1
]}

Deng, Xiong ^{[2
]}

Xu, Hongbo ^{[2
]}

Xiong, Wei ^{[4
]}

Zhu, Shaihong ^{[2
]}

Xie, Wenjie ^{[1
]}

Song, Zhi ^{[3
]}

Jankovic, Joseph ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[2] Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China

[3] Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China

[4] Cent S Univ, Xiangya Sch Med, Canc Res Inst, Changsha, Hunan, Peoples R China

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2010年 / 392卷 / 04期

基金：

中国国家自然科学基金;

关键词：

Parkinson's disease; The mammalian achaete-scute homolog 1 gene; Polyglutamine length variant; MUTATIONS;

D O I：

10.1016/j.bbrc.2010.01.061

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

Several genetic variants in transcription factor genes have been reported to be associated with Parkinson's disease (PD). The mammalian achaete-scute homolog 1 gene (MASH1) controls development of the locus coeruleus. Furthermore, polyglutamine length variation in MASH1 gene appears to confer protective effects against PD, at least in Japanese population. To determine whether genetic variation in the coding region of the MASH1 gene plays a role in the etiology of PD Caucasian patients, we analyzed the whole coding region of the MASH1 gene in PD patients from North America. Case-control analysis showed nominal association between polyglutamine length variation in MASH1 and Caucasian PD, 8% of PD vs 13% of normal controls had 13 CAG repeats (p, = 0.027, chi(2) = 4.906). Our data support the role of the polyglutamine length variants in the MASH1 gene in PD susceptibility. (C) 2010 Elsevier Inc. All rights reserved.

引用

页码：548 / 550

页数：3

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