G2019S LRRK2 突变在韩国帕金森病和多系统萎缩患者中罕见。
The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy.
机构信息
Department of Neurology, College of Medicine, Seoul National University, Metropolitan Boramae Hospital, Seoul, Korea.
出版信息
J Clin Neurol. 2009 Mar;5(1):29-32. doi: 10.3988/jcn.2009.5.1.29. Epub 2009 Mar 31.
Abstract
BACKGROUND AND PURPOSE
The LRRK2 (PARK8; OMIM607060) substitution was recently identified as a causative mutation for Parkinson's disease (PD). The pathologic heterogeneity of LRRK2-positive patients suggests that mutation of the LRRK2 gene is associated with the pathogenesis of PD and Parkinson-plus disorders, such as multiple system atrophy (MSA). We previously reported that the G2019S LRRK2 mutation-which is the most common LRRK2 mutation-was not found in a sample of 453 Korean PD patients. In the present study, we extended the screening for the G2019S mutation to a larger group of PD and MSA patients.
METHODS
We performed a genetic analysis of the G2019S mutation in 877 patients with PD and 199 patients with MSA using a standard PCR and restriction digestion method.
RESULTS
None of the subjects carried the G2019S mutation.
CONCLUSIONS
The results of the present study support that the G2019S mutation is extremely rare in PD and is unlikely to be associated with MSA in the Korean population.
摘要
背景与目的
LRRK2（PARK8；OMIM607060）取代最近被确定为帕金森病（PD）的致病突变。LRRK2 阳性患者的病理异质性表明，LRRK2 基因突变与 PD 及帕金森病叠加综合征（如多系统萎缩症，MSA）的发病机制有关。我们之前的研究报告称，在 453 名韩国 PD 患者样本中未发现最常见的 LRRK2 突变 G2019S。在本研究中，我们将 G2019S 突变的筛查扩大到了更大的 PD 和 MSA 患者群体。
方法
我们使用标准的 PCR 和酶切方法对 877 名 PD 患者和 199 名 MSA 患者的 G2019S 突变进行了遗传分析。
结果
所有受试者均未携带 G2019S 突变。
结论
本研究结果支持 G2019S 突变在韩国人群中极为罕见，不太可能与 MSA 相关。
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本文引用的文献
1
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J Clin Neurol. 2008 Mar;4(1):23-8. doi: 10.3988/jcn.2008.4.1.23. Epub 2008 Mar 20.
2
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.LRRK2相关帕金森病的表型、基因型及全球遗传外显率：一项病例对照研究。
Lancet Neurol. 2008 Jul;7(7):583-90. doi: 10.1016/S1474-4422(08)70117-0. Epub 2008 Jun 6.
3
LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies.台湾人群中家族性帕金森病的LRRK2突变：临床、PET及功能研究
J Biomed Sci. 2008 Sep;15(5):661-7. doi: 10.1007/s11373-008-9260-0. Epub 2008 Jun 4.
4
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Can J Neurol Sci. 2007 Feb;34(1):53-5. doi: 10.1017/s0317167100005783.
5
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6
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Ann Neurol. 2006 Oct;60(4):389-98. doi: 10.1002/ana.21022.
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