The PLA2G6 gene in early-onset Parkinson's disease
The PLA2G6 gene in early-onset Parkinson's disease
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DOI：
10.1002/mds.23851
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发表时间：
2011-11-01
影响因子：
8.6
通讯作者：
Moeller, Jens Carsten
中科院分区：
文献类型：
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作者：
Kauther, Kai Michael;Hoeft, Christine;Moeller, Jens Carsten
背景：神经退行性疾病如帕金森病（PD）的确切病因尚不清楚。由于其在活性氧产生中的作用以及与脑铁积累的神经退行性变的关联，已经提出了钙非依赖性VI组磷脂酶a (2) （iPLA(2)-VI）可能参与PD的发病机制。方法：在这项研究中，我们分析了102对早发性帕金森病（EOPD）不一致的PLA2G6基因编码iPLA(2)-VI的所有17个外显子，以及166例EOPD患者和155例无关对照。结果：在3例典型l -多巴反应性散发性EOPD患者中发现2个相邻密码子的非同义单核苷酸多态性（snp） 2339A>G （n = 2）和2341G>A (n = 1)，而在我们的对照组中没有发现，提示PLA2G6可能在罕见病例EOPD的发病机制中起作用。结论：未来的研究应该调查这些snp在其他PD人群和更大的对照组中的患病率，并解决PLA2G6基因剩余部分可能的遗传改变。(C) 2011运动障碍学会
Background: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium-independent group VI phospholipase A(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.Methods: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA(2)-VI in a group of 102 discordant pairs with early-onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls.Results: The nonsynonymous single-nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L-dopa-responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases.Conclusions: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. (C) 2011 Movement Disorder Society