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

为了阐明帕金森病（PD）的病因和发病机制，对遗传性PD的研究非常重要。然而，在许多家族性PD患者中，特别是常染色体显性PD（ADPD）患者中，尚未检测到疾病相关突变。本研究旨在通过对ADPD基因突变的分析，寻找新的致病基因，阐明PD的致病机制。从我们的结果中，我们可以鉴定出许多疾病相关的突变，如SNCA，LRRK2，SCA2，VPS35和GBA。换句话说，我们可以确定与ADPD病理机制密切相关的许多遗传因素中的一部分。此外，在过去三年中，我们的基因库中登记了300多个ADPD家庭。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，这将有助于识别新的致病基因，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。

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.