G/A 多态性位于内含子序列中，影响帕金森病患者 MAO-B 基因的加工。

G/A polymorphism in intronic sequence affects the processing of MAO-B gene in patients with Parkinson disease.

机构信息

Department of Immunology and Cell Biology, Vilnius University, Institute of Biotechnology, LT-02241 Vilnius, Lithuania.

出版信息

FEBS Lett. 2012 Oct 19;586(20):3698-704. doi: 10.1016/j.febslet.2012.08.028. Epub 2012 Sep 10.

DOI:10.1016/j.febslet.2012.08.028

Abstract

Monoamine oxidase B (MAO-B) plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. Increased levels of MAO-B mRNA and enzymatic activity have been reported in platelets from patients with Parkinson's and Alzheimer's diseases, however the triggers of enhanced mRNA levels are unknown. Our results demonstrate for the first time that G/A dimorphism in intron 13 sequence creates splicing enhancer thus stimulating intron 13 removal efficiency. The increased MAO-B protein levels might serve as a surrogate marker for - Parkinson disease.

摘要

单胺氧化酶 B（MAO-B）在中枢神经系统和外周组织中神经活性和血管活性胺的代谢中起着重要作用。帕金森病和阿尔茨海默病患者血小板中的 MAO-B mRNA 和酶活性水平升高，但增强 mRNA 水平的触发因素尚不清楚。我们的研究结果首次表明，内含子 13 序列中的 G/A 二态性创造了剪接增强子，从而刺激内含子 13 的去除效率。MAO-B 蛋白水平的升高可能是帕金森病的替代标志物。