中国现代神经疾病杂志 ›› 2023, Vol. 23 ›› Issue (9): 775-781. doi: 10.3969/j.issn.1672-6731.2023.09.002

• 专题综述 • 上一篇    下一篇

2 短串联重复序列相关神经肌肉病临床及机制研究进展

万雅兰1, 于佳希1, 邓健文1, 洪道俊2,*(), 王朝霞1,*()   

  1. 1. 100034 北京大学第一医院神经内科
    2. 330006 南昌大学附属第一医院神经内科
  • 收稿日期:2023-08-09 出版日期:2023-09-25 发布日期:2023-10-10
  • 通讯作者: 洪道俊, 王朝霞
  • 基金资助:
    国家自然科学基金资助项目(82071409); 国家自然科学基金资助项目(U20A20356); 国家自然科学基金资助项目(82171846); 北京市科技新星计划(2022018); 首都卫生发展科研专项青年优才项目(首发2022-4-40716)

Clinical and mechanism research progress on short tandem repeat-related neuromuscular diseases

Ya-lan WAN1, Jia-xi YU1, Jian-wen DENG1, Dao-jun HONG2,*(), Zhao-xia WANG1,*()   

  1. 1. Department of Neurology, Peking University First Hospital, Beijing 100034, China
    2. Department of Neurology, the First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi, China
  • Received:2023-08-09 Online:2023-09-25 Published:2023-10-10
  • Contact: Dao-jun HONG, Zhao-xia WANG
  • Supported by:
    the National Natural Science Foundation of China(82071409); the National Natural Science Foundation of China(U20A20356); the National Natural Science Foundation of China(82171846); Beijing Science and Technology New Star Program(2022018); Capital Health Development Research Special Youth Talent Project(首发2022-4-40716)

摘要:

短串联重复序列(STR)是人类基因组的构成部分,其重复次数易在DNA复制过程中发生变化,当重复次数超过一定阈值时可导致疾病的发生,其中大多数累及神经系统。随着第三代长读长测序技术的迅速发展和广泛应用,越来越多的神经肌肉病被证实与STR异常扩增有关。本文综述STR相关神经肌肉病的临床和机制研究进展,以为临床研究提供指导。

关键词: 神经肌肉疾病, 微卫星重复, 综述

Abstract:

Short tandem repeat (STR) is a component of the human genome, the number of repeats of STR is prone to change during DNA replication, and when it exceeds a certain threshold, it will lead to the occurrence of diseases, most of which involve the nervous system. With the rapid development and wide application of the third generation long read long sequencing technology, more and more neuromuscular diseases have been confirmed to be related to STR variation. This article reviews the clinical and mechanism research progress on STR-related neuromuscular diseases, so as to provide guidance for clinical research.

Key words: Neuromuscular diseases, Microsatellite repeats, Review