Research advances in abnormal RNA splicing in neurodegenerative diseases
10.19845/j.cnki.zfysjjbzz.2025.0144
- VernacularTitle:RNA剪接异常在神经系统变性疾病中的研究进展
- Author:
Minqi CAI
1
;
Bing BAI
2
Author Information
1. 南京大学医学院附属鼓楼医院核医学科，江苏 南京 210008
2. 南京大学医学院附属鼓楼医院检验科，江苏 南京 210008
- Publication Type:Journal Article
- Keywords:
RNA splicing;
Neurodegenerative disease;
Alzheimer disease;
Frontotemporal dementia;
Amyotrophic lateral sclerosis;
Parkinson disease;
Huntington disease;
Multiple sclerosis
- MeSH:
Alzheimer Disease;
Parkinson Disease
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(8):754-761
- CountryChina
- Language:Chinese
-
Abstract:
RNA splicing is an essential cellular process in which a series of protein-nucleic acid complexes cut and splice the products of gene transcription to generate mature RNA， and it plays an important role in maintaining the normal life activities of cells. Extensive studies have shown that proteins and nucleic acids associated with RNA splicing undergo the pathological changes such as aggregation in neurodegenerative diseases， and inadequate RNA splicing is observed in lesions. Genetic alterations within RNA splicing-related genes can cause neurodegenerative diseases. All these findings suggest that abnormalities in RNA splicing pathways may play a significant role in the pathogenesis of neurodegenerative diseases. This article reviews the research advances in the alterations of RNA splicing in common neurodegenerative diseases in terms of histopathology， biochemistry， and genetics， as well as related cell biology and animal models， in order to clarify their role in the pathogenesis of neurodegenerative diseases.
- Full text:2025090415202571991RNA剪接异常在神经系统变性疾病中的研究进展.pdf
