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Gnentic analysis to identify new causative genes in autosomal dominant Parkinson's disease

Gnentic 分析识别常染色体显性帕金森病的新致病基因

基本信息

批准号：
21591098
负责人：
TOMIYAMA Hiroyuki
金额：
$ 2.91万
依托单位：
Juntendo University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2009
资助国家：
日本
起止时间：
2009 至 2011
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21591098/
关键词：
パーキンソン病(PD)常染色体優性遺伝性パーキンソン病(ADPD)遺伝遺伝子遺伝子変異多型パーキンソン病家族性パーキンソン病常染色体優性遺伝分子遺伝学変異 SNCA LRRK2 パーキソンソ病家族性パーキソンソ病

项目摘要

To clarify the etiology and pathogenesis of Parkinson's disease(PD), studies for hereditary PD are very important. However, disease-related mutations have not been detected in many patients with familial PD, especially in autosomal dominant PD(ADPD). In this study, we aimed to identify novel causative genes and elucidate the pathogenic mechanisms of PD by conducting mutation analysis for ADPD. From our results, we could identify many disease-related mutations such as SNCA, LRRK2, SCA2, VPS35, and GBA. In other words, we could identify a portion of the many genetic factors which are strongly related to the pathological mechanisms of ADPD. Furthermore, over 300 families with ADPD were registered in our genetic bank in the past three years. This implies that our study has been making meaningful progress by establishing a firm foundation for future research, which will help to identify novel causative genes and to clarify the etiology and pathogenesis in ADPD. In fact, some new candidate genes have been detected.

为了阐明帕金森病的病因和发病机制，遗传性帕金森病的研究是非常重要的。然而，在许多家族性帕金森病患者中，尤其是常染色体显性遗传性帕金森病(ADPD)患者中未检测到与疾病相关的突变。本研究旨在通过对ADPD基因的突变分析，寻找新的致病基因，阐明PD的发病机制。从我们的结果中，我们可以发现许多与疾病相关的突变，如SNCA、LRRK2、SCA2、VPS35和GBA。换句话说，我们可以确定与ADPD的病理机制密切相关的许多遗传因素的一部分。此外，在过去的三年里，有300多个ADPD家系在我们的基因库中注册。这意味着我们的研究已经取得了有意义的进展，为未来的研究奠定了坚实的基础，这将有助于发现新的致病基因，并阐明ADPD的病因和发病机制。事实上，已经发现了一些新的候选基因。