Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Guangxi, China.
Neurobiol Aging. 2020 Feb;86:202.e5-202.e6. doi: 10.1016/j.neurobiolaging.2019.09.002. Epub 2019 Sep 10.
Recently, a mutation in NUS1 has been reported to be associated with Parkinson's disease (PD) in a Chinese population. To further investigate the relationship between NUS1 and sporadic PD, we sequenced all exons and exon-intron boundaries of NUS1 in Chinese Han population including 494 PD patients and 478 healthy control individuals. As a result, we did not find the pathogenic mutation of NUS1 in PD patients. However, we detect 9 exonic variants including 4 synonymous variants and 5 nonsynonymous variants. Pathogenicity predictions indicated that 2 novel nonsynonymous variants (c.432 T>G, c.86 G>C) may be deleterious. All variants showed no significant association with sporadic PD. These results suggested that NUS1 mutation may not be a common genetic factor for Chinese patients with sporadic PD.
最近，有报道称 NUS1 中的突变与中国人群中的帕金森病（PD）有关。为了进一步研究 NUS1 与散发性 PD 的关系，我们对包括 494 例 PD 患者和 478 例健康对照在内的中国汉族人群中的 NUS1 所有外显子和外显子-内含子边界进行了测序。结果，我们在 PD 患者中未发现 NUS1 的致病突变。然而，我们检测到 9 个外显子变异，包括 4 个同义变异和 5 个非同义变异。致病性预测表明，2 个新的非同义变异（c.432T>G，c.86G>C）可能是有害的。所有变异与散发性 PD 均无显著相关性。这些结果表明，NUS1 突变可能不是中国散发性 PD 患者的常见遗传因素。
