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
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
071010 ; 081704 ;
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
收藏
页码:548 / 550
页数:3
相关论文
共 26 条
  • [1] Andersson E, 2006, CELL, V124, P393, DOI [10.1016/j.cell.2005.10.037, 10.1016/J.CELL.2005.10.037]
  • [2] Impaired learning and memory in Pitx3 deficient aphakia mice:: A genetic model for striatum-dependent cognitive symptoms in Parkinson's disease
    Ardayfio, Paul
    Moon, JiSook
    Leung, Ka Ka Amanda
    Youn-Hwang, Dong
    Kim, Kwang-Soo
    [J]. NEUROBIOLOGY OF DISEASE, 2008, 31 (03) : 406 - 412
  • [3] PITX3 polymorphism is associated with early onset Parkinson's disease
    Bergman, Olle
    Hakansson, Anna
    Westberg, Lars
    Nordenstrom, Kajsa
    Belin, Andrea Carmine
    Sydow, Olof
    Olson, Lars
    Holmberg, Bjorn
    Eriksson, Elias
    Nissbrandt, Hans
    [J]. NEUROBIOLOGY OF AGING, 2010, 31 (01) : 114 - 117
  • [4] Invited Article: Nervous system pathology in sporadic Parkinson disease
    Braak, Heiko
    Del Tredici, Kelly
    [J]. NEUROLOGY, 2008, 70 (20) : 1916 - 1925
  • [5] Nuclear receptor NR4A2 IVS6+18insG and brain derived neurotrophic factor (BDNF) V66M polymorphisms and risk of Taiwanese Parkinson's disease
    Chen, Chiung-Mei
    Chen, I-Cheng
    Chang, Kuo-Hsuan
    Chen, Yi-Chun
    Lyu, Rong-Kuo
    Liu, Yen-Tzu
    Hu, Fen-Ju
    Chao, Chih-Ying
    Lee-Chen, Guey-Jen
    Wu, Yih-Ru
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2007, 144B (04) : 458 - 462
  • [6] Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice
    Dauger, S
    Renolleau, S
    Vardon, G
    Népote, V
    Mas, C
    Simonneau, M
    Gaultier, C
    Gallego, J
    [J]. PEDIATRIC RESEARCH, 1999, 46 (05) : 535 - 542
  • [7] Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
    de Pontual, L
    Népote, V
    Attié-Bitach, T
    Al Halabiah, H
    Trang, H
    Elghouzzi, V
    Levacher, B
    Benihoud, K
    Augé, J
    Faure, C
    Laudier, B
    Vekemans, M
    Munnich, A
    Perricaudet, M
    Guillemot, F
    Gaultier, C
    Lyonnet, S
    Simonneau, M
    Amiel, J
    [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (23) : 3173 - 3180
  • [8] Gene dosage analysis of α-synuclein (SNCA) in patients with Parkinson's disease
    Deng, H
    Xie, WJ
    Guo, Y
    Le, WD
    Jankovic, J
    [J]. MOVEMENT DISORDERS, 2006, 21 (05) : 728 - 729
  • [9] G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients
    Deng, H
    Le, WD
    Zhang, X
    Pan, TH
    Jankovic, J
    [J]. ACTA NEUROLOGICA SCANDINAVICA, 2005, 111 (06): : 351 - 352
  • [10] Premutation Alleles associated with Parkinson disease and essential tremor
    Deng, H
    Le, WD
    Jankovic, J
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2004, 292 (14): : 1685 - 1686