原发性进行性失语的基因机制研究进展

doi:10.3969/j.issn.1006-9771.2020.11.010

《中国康复理论与实践》 ›› 2020, Vol. 26 ›› Issue (11): 1305-1310.doi: 10.3969/j.issn.1006-9771.2020.11.010

原发性进行性失语的基因机制研究进展

封世文^1,²(),李倩南^2,³,杨龙^2,³,邵可青^2,³

1.南通大学,江苏南通市 226019
2.江苏师范大学语言能力协同创新中心,江苏徐州市 221009
3.江苏省语言与认知神经科学重点实验室,江苏徐州市 221009

收稿日期:2020-01-14 修回日期:2020-04-14 出版日期:2020-11-25 发布日期:2020-11-24
通讯作者: 封世文 E-mail:fengsw@ntu.edu.cn
作者简介:封世文(1978-),男,汉族,江苏南京市人,博士,副教授,主要研究方向：神经语言学。
基金资助:
1.国家自然科学基金项目(31571156);2.江苏省哲学社会科学基金重点项目(No. )(16AYY001)

Advance in Genetic Mechanism of Primary Progressive Aphasia (review)

FENG Shi-wen^1,²(),LI Qian-nan^2,³,YANG Long^2,³,SHAO Ke-qing^2,³

1. Nantong University, Nantong, Jiangsu 226019, China
2. Collaborative Innovation Center for Language Ability of Jiangsu Normal University, Xuzhou, Jiangsu 221009, China
3. Key Laboratory of Language and Cognitive Neuroscience of Jiangsu Province, Xuzhou, Jiangsu 221009, China

Received:2020-01-14 Revised:2020-04-14 Published:2020-11-25 Online:2020-11-24
Contact: FENG Shi-wen E-mail:fengsw@ntu.edu.cn
Supported by:
National Natural Science Foundation of China(31571156);Jiangsu Social Science Fund (Key)(16AYY001)

摘要/Abstract

摘要：

原发性进行性失语(PPA)是一种常见的退行性神经系统性言语障碍疾病。早期研究初步发现大脑水平的致病原因;而基于基因技术研究发现,约20%~30%患者存在常染色体显性遗传,C9基因突变是导致与肌萎缩性脊髓侧索硬化症、额颞叶痴呆等PPA类相关疾病的因素,C9基因重复序列扩增可能干扰C9基因表达,阻断RNA结合蛋白,并破坏RNA功能。

关键词: 原发性进行性失语, 基因性言语障碍, 基因序列重复扩增, 综述

Abstract:

Primary progressive aphasia (PPA) is a common neurodegenerative speech disease. Earlier studies on PPA merely observed preliminary pathogenic factors at the brain level. Based on genetic technology, almost 20% to 30% patients with autosomal dominant inheritance reveals that this deficit is closely relevant to gene mutation. C9 gene mutation is the primary factor related to amyotrophic lateral sclerosis and frontotemporal dementia, which is attributed to the main causes of PPA. Repeating expansion of C9 gene may influence the expression of C9 gene, block the combination of RNA and protein, and destroy RNA function.

Key words: primary progressive aphasia, genetic language disorders, amplification of repetitive sequences of gene, review

中图分类号:

R742

封世文,李倩南,杨龙,邵可青. 原发性进行性失语的基因机制研究进展[J]. 《中国康复理论与实践》, 2020, 26(11): 1305-1310.

FENG Shi-wen,LI Qian-nan,YANG Long,SHAO Ke-qing. Advance in Genetic Mechanism of Primary Progressive Aphasia (review)[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2020, 26(11): 1305-1310.

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