肌苷三磷酸焦磷酸酶:细胞核苷酸库的守护者和RNA功能的潜在介质。

IF 6.4 2区 生物学 Q1 CELL BIOLOGY Wiley Interdisciplinary Reviews: RNA Pub Date : 2023-09-01 Epub Date: 2023-04-24 DOI:10.1002/wrna.1790
Jacob H Schroader, Mark T Handley, Kaalak Reddy
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引用次数: 1

摘要

肌苷三磷酸焦磷酸酶(ITPase)由人类的ITPA基因编码,是一种重要的酶,通过将非经典嘌呤核苷酸(脱氧)肌苷和(脱氧)黄嘌呤三磷酸水解为单磷酸盐和焦磷酸盐来保持细胞核苷酸库的完整性。ITPA基因的变异可导致部分或完全ITPA酶缺乏。ITPase部分缺乏是良性的,但与临床相关,因为它与药物反应的改变有关。ITPase完全缺乏会导致严重的多系统疾病,其特征是癫痫发作和脑病,通常与致命的婴儿扩张型心肌病有关。在缺乏ITPase活性的情况下,其底物非经典核苷酸有可能积累并异常结合到DNA和RNA中。因此,ITPase缺乏症的病理生理学可能由代谢失衡、DNA或RNA调节改变或这些因素的组合引起。在这里,我们回顾了ITPA酶的已知功能,并强调了最近旨在确定ITPA相关发病机制的分子基础的工作,这为RNA功能障碍提供了证据。这篇文章被分类为:RNA在疾病和发展中>RNA在疾病中RNA在疾病与发展中>核糖核酸在发展中。
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Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.

Inosine triphosphate pyrophosphatase (ITPase), encoded by the ITPA gene in humans, is an important enzyme that preserves the integrity of cellular nucleotide pools by hydrolyzing the noncanonical purine nucleotides (deoxy)inosine and (deoxy)xanthosine triphosphate into monophosphates and pyrophosphate. Variants in the ITPA gene can cause partial or complete ITPase deficiency. Partial ITPase deficiency is benign but clinically relevant as it is linked to altered drug responses. Complete ITPase deficiency causes a severe multisystem disorder characterized by seizures and encephalopathy that is frequently associated with fatal infantile dilated cardiomyopathy. In the absence of ITPase activity, its substrate noncanonical nucleotides have the potential to accumulate and become aberrantly incorporated into DNA and RNA. Hence, the pathophysiology of ITPase deficiency could arise from metabolic imbalance, altered DNA or RNA regulation, or from a combination of these factors. Here, we review the known functions of ITPase and highlight recent work aimed at determining the molecular basis for ITPA-associated pathogenesis which provides evidence for RNA dysfunction. This article is categorized under: 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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