血友病的表观遗传景观。

IF 2.5 4区 医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Swaroop Kumar Pandey, Ayush Kulshreshtha, Anuja Mishra
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引用次数: 0

摘要

血友病是一种罕见的遗传性出血性疾病,需要终生管理以阻止出血发作并减少并发症。虽然血友病的遗传基础有充分的文献记载,但最近的研究表明,表观遗传途径可以影响疾病的严重程度、治疗的有效性和并发症的发生。表观遗传学研究的进展使得更好地了解血友病的复杂性并设计合适和有针对性的治疗成为可能。全球许多国家都在探索新兴的进步和挑战。几个表观遗传因素影响这种疾病的表现及其严重程度。治疗干预是治疗这种疾病的基石。血友病主要基因(F8/F9)的表观遗传调控尚不完全清楚。通过正确的治疗、预防策略和更好的卫生保健方案,可以减少密闭区域内的血友病病例。我们探索复杂的凝血过程,遗传模式和遗传变化,有助于血友病的病理生理。本文回顾了目前对血友病表观遗传学的理解,特别关注非编码rna、组蛋白变化和DNA甲基化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Epigenetic Landscape of Hemophilia.

Hemophilia, a rare inherited bleeding illness that needs to be managed throughout one's life to stop bleeding episodes and lessen complications. Although the genetic foundation of hemophilia is well documented, recent research has demonstrated that epigenetic pathways can influence the severity of the disease, the effectiveness of treatment, and the occurrence of complications. Advances in epigenetic research have made it possible to better understand the complexities of hemophilia and design suitable and targeted treatments. Emerging advancements as well as challenges are explored within many countries around the globe. Several epigenetic factors influence how the disorder manifests and its severity. Therapeutic interventions are the cornerstone for treating the disorder. The epigenetic regulation of the principal hemophilia genes (F8/F9) is still not fully understood. With the right treatment, preventative strategies, and better healthcare protocols, hemophilia cases in a confined area can be decreased. We explore the intricate blood clotting processes, inheritance patterns, and genetic changes that contribute to hemophilia's pathophysiology. The current understanding of epigenetics in hemophilia is examined in this review, with particular attention paid to non-coding RNAs, histone changes, and DNA methylation.

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来源期刊
Current molecular medicine
Current molecular medicine 医学-医学:研究与实验
CiteScore
5.00
自引率
4.00%
发文量
141
审稿时长
4-8 weeks
期刊介绍: Current Molecular Medicine is an interdisciplinary journal focused on providing the readership with current and comprehensive reviews/ mini-reviews, original research articles, short communications/letters and drug clinical trial studies on fundamental molecular mechanisms of disease pathogenesis, the development of molecular-diagnosis and/or novel approaches to rational treatment. The reviews should be of significant interest to basic researchers and clinical investigators in molecular medicine. Periodically the journal invites guest editors to devote an issue on a basic research area that shows promise to advance our understanding of the molecular mechanism(s) of a disease or has potential for clinical applications.
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