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组氨酸 N-甲基转移酶 Thr105lle 多态性与帕金森病有关。

Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease.

机构信息

Mediterranean Institute for Life Science, Split, Croatia.

出版信息

Neurobiol Aging. 2012 Apr;33(4):836.e1-3. doi: 10.1016/j.neurobiolaging.2011.06.015. Epub 2011 Jul 27.

Abstract

Histamine is a central neurotransmitter degraded by histamine-N-methyltransferase (HNMT). Several abnormalities in the histaminergic system were found in patients with Parkinson's disease (PD), thus we tested the possible association of a Thr105Ile functional polymorphism in HNMT with PD. A total of 913 patients with PD and 958 controls were genotyped using a TaqMan RT-PCR Genotyping Assay (Foster City, California, USA). Lower frequency of HNMT Ile105 allele that is associated with decreased enzymatic activity was found in patients compared with controls (χ(2) = 11.65; p = 0.0006). We performed meta-analysis to confirm the association of Thr105Ile functional polymorphism with PD. Our results indicate that lower HNMT activity plays a role in the pathogenesis of PD.

摘要

组氨酸是一种中枢神经递质,由组氨酸-N-甲基转移酶(HNMT)降解。帕金森病(PD)患者的组氨酸能系统存在多种异常,因此我们检测了 HNMT 中 Thr105Ile 功能多态性与 PD 的可能相关性。使用 TaqMan RT-PCR 基因分型检测(加利福尼亚州福斯特市,美国)对 913 例 PD 患者和 958 例对照进行了基因分型。与对照组相比,患者中与酶活性降低相关的 HNMT Ile105 等位基因频率较低(χ(2) = 11.65;p = 0.0006)。我们进行了荟萃分析以确认 Thr105Ile 功能多态性与 PD 的关联。我们的结果表明,较低的 HNMT 活性在 PD 的发病机制中起作用。

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