Yue Mingyang, Jia Rong
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University Wuhan 430072, China.
Curr Gene Ther. 2025;25(4):349-359. doi: 10.2174/0115665232302948240718050212.
Alternative splicing (AS) of pre-mRNA occurs widely in human genes to produce multiple isoforms with different or even opposite functions. Aberrant AS is often associated with gene mutations and can be corrected by gene therapy. Oral diseases are important public health problems worldwide. Accumulated pieces of evidence demonstrate that AS of pathogenic genes plays key roles in some oral diseases. However, considering the extensiveness and complexity of AS, it may affect the initiation and development of oral diseases deeply and widely. This review describes the diversity of AS and resulting isoforms in genetic, infectious, and malignant oral diseases and highlights the key roles of AS in determining the function of isoforms and the occurrence and progression of these diseases. The studies of alternative splicing may provide great opportunities for the understanding and treatment of oral diseases.
前体mRNA的可变剪接（AS）在人类基因中广泛存在，可产生具有不同甚至相反功能的多种异构体。异常的可变剪接通常与基因突变相关，并且可以通过基因治疗进行纠正。口腔疾病是全球重要的公共卫生问题。越来越多的证据表明，致病基因的可变剪接在某些口腔疾病中起关键作用。然而，考虑到可变剪接的广泛性和复杂性，它可能会对口腔疾病的发生和发展产生深远而广泛的影响。这篇综述描述了在遗传性、感染性和恶性口腔疾病中可变剪接及其产生的异构体的多样性，并强调了可变剪接在决定异构体功能以及这些疾病的发生和发展中的关键作用。可变剪接的研究可能为口腔疾病的理解和治疗提供巨大的机会。
