NOTCH2NLC中间长度重复序列扩增与帕金森病相关。
NOTCH2NLC Intermediate-Length Repeat Expansions Are Associated with Parkinson Disease.
作者信息
Shi Chang-He, Fan Yu, Yang Jing, Yuan Yan-Peng, Shen Si, Liu Fen, Mao Cheng-Yuan, Liu Han, Zhang Shuo, Hu Zheng-Wei, Fan Li-Yuan, Li Meng-Jie, Fan Shi-Heng, Liu Xiao-Jing, Xu Yu-Ming
机构信息
Department of Neurology, First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.
Henan Key Laboratory of Cerebrovascular Diseases, First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.
出版信息
Ann Neurol. 2021 Jan;89(1):182-187. doi: 10.1002/ana.25925. Epub 2020 Oct 19.
NOTCH2NLC GGC repeat expansions were recently identified in neuronal intranuclear inclusion disease (NIID); however, it remains unclear whether they occur in other neurodegenerative disorders. This study aimed to investigate the role of intermediate-length NOTCH2NLC GGC repeat expansions in Parkinson disease (PD). We screened for GGC repeat expansions in a cohort of 1,011 PD patients and identified 11 patients with intermediate-length repeat expansions ranging from 41 to 52 repeats, with no repeat expansions in 1,134 controls. Skin biopsy revealed phospho-alpha-synuclein deposition, confirming the PD diagnosis in 2 patients harboring intermediate-length repeat expansions instead of NIID or essential tremor. Fibroblasts from PD patients harboring intermediate-length repeat expansions revealed NOTCH2NLC upregulation and autophagic dysfunction. Our results suggest that intermediate-length repeat expansions in NOTCH2NLC are potentially associated with PD. ANN NEUROL 2021;89:182-187.
NOTCH2NLC基因GGC重复序列扩增最近在神经元核内包涵体病（NIID）中被发现；然而，它们是否存在于其他神经退行性疾病中仍不清楚。本研究旨在探讨中等长度的NOTCH2NLC基因GGC重复序列扩增在帕金森病（PD）中的作用。我们在1011例PD患者队列中筛查GGC重复序列扩增，发现11例患者有41至52个重复序列的中等长度重复序列扩增，而1134例对照中无重复序列扩增。皮肤活检显示磷酸化α-突触核蛋白沉积，证实2例携带中等长度重复序列扩增的患者诊断为PD，而非NIID或特发性震颤。携带中等长度重复序列扩增的PD患者的成纤维细胞显示NOTCH2NLC上调和自噬功能障碍。我们的结果表明，NOTCH2NLC基因中等长度重复序列扩增可能与PD相关。《神经病学年鉴》2021年；89:182 - 187。
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