中国神经再生研究(英文版) ›› 2024, Vol. 19 ›› Issue (7): 1499-1508.doi: 10.4103/1673-5374.385855

• 综述:脑损伤修复保护与再生 • 上一篇    下一篇

脑性瘫痪遗传途径:对精准诊断和了解疾病机制的影响

  

  • 出版日期:2024-07-15 发布日期:2023-11-28
  • 基金资助:
    国家自然科学基金项目;国家重点研发计划项目;河南省人口缺陷预防重点实验室;河南省科技厅项目资助

Genetic pathways in cerebral palsy: a review of the implications for precision diagnosis and understanding disease mechanisms

Yiran Xu1, 2, #, Yifei Li3, #, Seidu A. Richard1, Yanyan Sun3, *, Changlian Zhu1, 4, *   

  1. 1Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China; 2National Health Council (NHC) Key Laboratory of Birth Defects Prevention, Henan Key Laboratory of Population Defects Prevention, Zhengzhou, Henan Province, China; 3Department of Human Anatomy, School of Basic Medicine and Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan Province, China; 4Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden
  • Online:2024-07-15 Published:2023-11-28
  • Contact: Yanyan Sun, MD, PhD, yanyan.sun@zzu.edu.cn; Changlian Zhu, MD, PhD, changlian.zhu@neuro.gu.se.
  • Supported by:
    This work was supported by the National Natural Science Foundation of China, No. U21A20347 (to CZ); the National Key Research and Development Program of China, No. 2022YFC2704801 (to CZ); the Henan Key Laboratory of Population Defects Prevention, No. ZD202103 (to YX); and the Department of Science and Technology of Henan Province of China, No. 212102310221 (to YX). 

摘要:

脑性瘫痪是一组由于胎儿或新生儿期脑损伤导致的永久性非进行性的运动和姿势障碍。脑性瘫痪的病因途径因其复杂性和异质性仍缺乏全面理解。目前,人们普遍认为基因突变和改变在脑性瘫痪的发展中起着关键作用,而环境因素又会进一步影响脑性瘫痪的发展。尽管研究工作一直在进行,但导致脑性瘫痪的潜在因素仍然难以捉摸。此综述文章总结发现,遗传因素在脑性瘫痪的发生发展中起着至关重要的作用,这些遗传因素进一步受到环境因素的影响。通过综合分析已有的致病变异和位点,将影响脑瘫的致病基因分为不同的致病途径,包括血栓形成、血管生成、线粒体和氧化磷酸化功能、神经元迁移和细胞自噬等,提供了一个更全面的视角来理解脑性瘫痪的发病机制。该综述还同时强调了基于遗传因素的精准医疗在脑性瘫痪治疗中的潜力。随着对脑性瘫痪遗传因素的深入理解,未来有可能为脑性瘫痪新的治疗方法开发铺平道路,从而更好地改善脑性瘫痪患者的治疗效果和提高生活质量。

https://orcid.org/0009-0005-0378-823X (Yanyan Sun); https://orcid.org/0000-0002-5029-6730 (Changlian Zhu)

Abstract: Cerebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture. Patients with cerebral palsy are often only capable of limited activity, resulting from non-progressive disturbances in the fetal or neonatal brain. These disturbances severely impact the child’s daily life and impose a substantial economic burden on the family. Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes, the understanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity. This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development. It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development, which can be further influenced by environmental factors. Despite continuous research endeavors, the underlying factors contributing to cerebral palsy remain are still elusive. However, significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development. Moreover, these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping, including thrombosis, angiogenesis, mitochondrial and oxidative phosphorylation function, neuronal migration, and cellular autophagy. Furthermore, exploring targeted genotypes holds potential for precision treatment. In conclusion, advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy. These breakthroughs have the potential to pave the way for new treatments and therapies, consequently shaping the future of cerebral palsy research and its clinical management. The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies. By elucidating the underlying cellular mechanisms, we can develop targeted interventions to optimize outcomes. A continued collaboration between researchers and clinicians is imperative to comprehensively unravel the intricate genetic etiology of cerebral palsy.

Key words: cerebral palsy, environmental factors, etiology, genetic factors, genetic mutation, movement disorder, spastic diplegia