罕见但相关的? 在帕金森病中评估与dystonia相关的基因变异
Lara M Lange1,2, Zih-Hua Fang3, Laurel Screven4
1Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
概括
与 dystonia 相关基因的致病变体在帕金森病 (PD) 患者中很少见. GCH1变种是最常见的,这表明它在PD中发挥了作用,而其他变种不太常见,它们的PD相关性不确定.
科学领域:
- 神经遗传学 神经遗传学
- 运动障碍 运动障碍
- 帕金森病研究 帕金森病研究
背景情况:
- 腹痛和帕金森病 (PD) 具有临床和遗传上的相似之处.
- dystonia 基因变异在 PD 病变发生过程中的作用尚不清楚.
研究的目的:
- 为了确定帕金森病 (PD) 队伍中与 dystonia 相关的基因中病原体变异的频率.
- 调查 dystonia 和 PD 之间的遗传重叠.
主要方法:
- 选了来自15684名个体的基因测序数据,包括PD患者,非典型帕金森症病例和未受影响的对照.
- 分析了先前与孤立的 dystonia, dystonia-parkinsonism 和 myoclonus-dystonia 相关的基因的变异.
主要成果:
- 致病变体仅在PD患者中发现.
- 0.54%的PD个体 (8272人中有45人) 携带了26个不同的致病变体,其中9个与 dystonia 相关的基因.
- GCH1和VPS16是最经常涉及的基因.
结论:
- 虽然很少见,但与 dystonia 相关的基因中的致病变体存在于被诊断为 PD 的个体中.
- 证实GCH1是PD相关的基因,具有潜在的临床影响.
- 其他已识别的基因的变异很少见,它们与PD表型的直接关联仍然不清楚.
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