白质营养不良症中表观遗传学的作用和 RNA 代谢的改变。

IF 6.4 2区 生物学 Q1 CELL BIOLOGY Wiley Interdisciplinary Reviews: RNA Pub Date : 2024-05-01 DOI:10.1002/wrna.1854
Federica Rey, Letizia Esposito, Erika Maghraby, Alessia Mauri, Clarissa Berardo, Eleonora Bonaventura, Davide Tonduti, Stephana Carelli, Cristina Cereda
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引用次数: 0

摘要

白质营养不良症是一类罕见的异质性疾病,会影响大脑白质,最终导致大脑发育障碍,并对认知、运动和社交沟通能力的发展造成破坏性影响。这些疾病具有很大的临床异质性和表型重叠性,部分原因可能是环境刺激造成的。正是在这种情况下,我们亟需研究还有哪些因素可能会导致疾病的发生和表型的异质性,而新的证据正在引起人们对表观遗传学和转录机制研究的关注,这些机制可以在遗传学之外影响疾病的表型。表观遗传学机制的改变,包括组蛋白修饰、DNA甲基化和非编码RNA失调,可能是这些疾病发病的关键因素,此外,RNA成熟过程异常也与白质营养不良症有关。在此,我们对这些机制进行了综述,希望能为分析白质营养不良症迈出更近一步,不仅将其视为由遗传决定的疾病,而且还将其视为表观遗传失调具有关键意义的复杂疾病。本文归类于调控 RNAs/RNAi/Riboswitches > 调控 RNA RNA 在疾病和发育中的作用 > RNA 在疾病中的作用 RNA 在疾病和发育中的作用 > RNA 在发育中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Role of epigenetics and alterations in RNA metabolism in leukodystrophies.

Leukodystrophies are a class of rare heterogeneous disorders which affect the white matter of the brain, ultimately leading to a disruption in brain development and a damaging effect on cognitive, motor and social-communicative development. These disorders present a great clinical heterogeneity, along with a phenotypic overlap and this could be partially due to contributions from environmental stimuli. It is in this context that there is a great need to investigate what other factors may contribute to both disease insurgence and phenotypical heterogeneity, and novel evidence are raising the attention toward the study of epigenetics and transcription mechanisms that can influence the disease phenotype beyond genetics. Modulation in the epigenetics machinery including histone modifications, DNA methylation and non-coding RNAs dysregulation, could be crucial players in the development of these disorders, and moreover an aberrant RNA maturation process has been linked to leukodystrophies. Here, we provide an overview of these mechanisms hoping to supply a closer step toward the analysis of leukodystrophies not only as genetically determined but also with an added level of complexity where epigenetic dysregulation is of key relevance. This article is categorized under: Regulatory RNAs/RNAi/Riboswitches > Regulatory RNA RNA in Disease and Development > RNA in Disease RNA in Disease and Development > RNA in Development.

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来源期刊
CiteScore
14.80
自引率
4.10%
发文量
67
审稿时长
6-12 weeks
期刊介绍: WIREs RNA aims to provide comprehensive, up-to-date, and coherent coverage of this interesting and growing field, providing a framework for both RNA experts and interdisciplinary researchers to not only gain perspective in areas of RNA biology, but to generate new insights and applications as well. Major topics to be covered are: RNA Structure and Dynamics; RNA Evolution and Genomics; RNA-Based Catalysis; RNA Interactions with Proteins and Other Molecules; Translation; RNA Processing; RNA Export/Localization; RNA Turnover and Surveillance; Regulatory RNAs/RNAi/Riboswitches; RNA in Disease and Development; and RNA Methods.
期刊最新文献
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