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首页> 美国卫生研究院文献>The Journal of Biological Chemistry >Thematic series: tRNAs and aminoacyl-tRNA synthetases in human disease: Aminoacyl-tRNA synthetases and tRNAs in human disease: an introduction to the JBC Reviews thematic series
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Thematic series: tRNAs and aminoacyl-tRNA synthetases in human disease: Aminoacyl-tRNA synthetases and tRNAs in human disease: an introduction to the JBC Reviews thematic series

机译：专题系列：人类疾病中的tRNA和氨基酰基-tRNA合成酶：人类疾病中的氨基酰基-tRNA合成酶和tRNA：JBC评论专题系列简介

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Aminoacyl-tRNA synthetases (ARSs) catalyze the attachment of specific amino acids to cognate tRNAs for use in protein synthesis. This historical function of ARSs and tRNAs is fairly well understood. However, ARSs and tRNAs also perform noncanonical functions that are continuing to be unveiled at a rapid pace. The expanded functions of these essential molecules of life range from roles in retroviral replication to stimulation of mammalian target of rapamycin (mTOR) activity; DNA repair, splicing, and transcriptional and translational regulation; and other aspects of cellular homeostasis. Furthermore, mutations in tRNAs and synthetases are known to drive human maladies, such as the neurodegenerative disorder Charcot-Marie-Tooth disease along with other central nervous system dysfunctions and cancer. This series of reviews focuses on the diseases that result from natural variations in human cytoplasmic tRNAs, as well as from mutations in mitochondrial tRNAs and ARSs. Ultimately, the exciting work in this rapidly emerging area may lead to new therapies for microbial and parasitic infections, cancer, and neurodegenerative diseases.
机译：氨酰基-tRNA合成酶（ARS）催化特定氨基酸与相关tRNA的结合，用于蛋白质合成。 ARS和tRNA的这种历史功能已广为人知。但是，ARS和tRNA也执行非规范功能，并且仍将以迅速的步伐公开。这些必需生命分子的扩展功能范围从逆转录病毒复制到刺激雷帕霉素（mTOR）活性的哺乳动物靶标； DNA修复，剪接以及转录和翻译调控；和细胞稳态的其他方面。此外，已知tRNA和合成酶的突变会引起人类疾病，例如神经退行性疾病Charcot-Marie-Tooth疾病以及其他中枢神经系统功能障碍和癌症。这一系列的综述着重于由人类细胞质tRNA的自然变异以及线粒体tRNA和ARS突变引起的疾病。最终，在这个迅速出现的领域中令人振奋的工作可能会导致针对微生物和寄生虫感染，癌症和神经退行性疾病的新疗法。

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