Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population
Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population
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DOI：
10.1016/j.neulet.2012.02.078
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发表时间：
2012-04
影响因子：
2.5
通讯作者：
J. Tian;B. Tang;Chang-he Shi;Zhan-yun Lv;Kai Li;Ri-li Yu;Lu Shen;Xinxiang Yan;Ji-feng Guo
中科院分区：
文献类型：
--
作者：
J. Tian;B. Tang;Chang-he Shi;Zhan-yun Lv;Kai Li;Ri-li Yu;Lu Shen;Xinxiang Yan;Ji-feng Guo
最近的研究表明，PLA2G6是与park14相关的常染色体隐性早发性复杂肌紧张性帕金森病、早发性帕金森病合并额颞叶痴呆和常染色体隐性早发性帕金森病的致病基因，但没有增加复杂的临床特征。为了探讨中国散发性早发性帕金森病患者PLA2G6基因突变的特点，我们对中国人群散发性早发性帕金森病患者进行了聚合酶链反应和DNA直接测序。在这项研究中，我们发现了一个新的杂合变异（p.G679V）。生物信息学表明，p.G679V在物种间表现出高度保守的残基，提示其可能是一种致病性突变。我们的结果表明PLA2G6突变可能不是中国散发性EOP的主要原因。
Recent studies have shown that PLA2G6 is a causative gene for PARK14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset Parkinsonism without added complicated clinical features. In order to investigate the characteristics of PLA2G6 gene mutations in Chinese sporadic early-onset parkinsonism (EOP) patients, we performed polymerase chain reaction and DNA direct sequencing on a cohort of sporadic EOP patients from Chinese population. In this study, we found a novel heterozygous varient (p.G679V). Bioinformatics demonstrates that p.G679V exhibits highly conserved residues across species, which hints it might be a pathogenic mutation. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic EOP.