Rett综合征：MECP2（人）和MECP2（小鼠）基因及其蛋白产物通过多种分子机制的致病性和调控

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 DOI:10.1016/j.mrrev.2025.108553

Bashir Ahmad , John Sieh Dumbuya , Ji-Xin Tang , Wen Li , Xiuling Chen , Jun Lu

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引用次数: 0

摘要

Rett综合征在50多年前首次被描述为一种不寻常的临床实体。x连锁MECP2基因的突变是Rett综合征的主要原因。非结构化MeCP2蛋白具有多种功能构象，使其研究复杂化。研究人员通过凋亡、有丝分裂、PI3K/AKT/mTOR通路、BMP信号通路、NF-kB、STAT3和Wnt/β-catenin通路等机制研究了MECP2的致病性和调控作用。这些机制以前从未被如此详细地审查过。总结这些途径对于促进研究人员进一步探索至关重要；因此，我们对这些途径进行了全面总结。

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Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms

Rett syndrome was first described over 50 years ago as an unusual clinical entity. Mutations in the X-linked MECP2 gene are the primary causes of Rett syndrome. The unstructured MeCP2 protein adopts various functional conformations, complicating its study. Researchers have investigated the pathogenicity and regulation of MECP2 through mechanisms such as apoptosis, mitophagy, the PI3K/AKT/mTOR pathway, BMP signaling, NF-kB, STAT3, and the Wnt/β-catenin pathway. These mechanisms have not been reviewed in such detail before. Summarizing these pathways is essential for facilitating further exploration by researchers; therefore, we have comprehensively summarized these pathways.

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来源期刊

Mutation Research-Reviews in Mutation Research 生物-毒理学

CiteScore

12.20

自引率

1.90%

发文量

审稿时长

15.7 weeks

期刊介绍： The subject areas of Reviews in Mutation Research encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease. Thus this section will cover advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concern.