Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes responsible for performing the first step of protein synthesis. Specifically, ARSs attach amino acids to their cognate tRNA molecules in the cytoplasm and mitochondria. Recent studies have demonstrated that mutations in genes encoding ARSs can result in neurodegeneration, raising many questions about the role of these enzymes (and protein synthesis in general) in neuronal function. In this review, we summarize the current knowledge of genetic diseases that are associated with mutations in ARS-encoding genes, discuss the potential pathogenic mechanisms underlying these disorders, and point to likely areas of future research that will advance our understanding about the role of ARSs in genetic diseases.

中文翻译：

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氨酰-tRNA 合成酶在遗传疾病中的作用。

氨酰-tRNA 合成酶 (ARS) 无处不在，是负责执行蛋白质合成第一步的必需酶。具体而言，ARS 将氨基酸连接到细胞质和线粒体中的同源 tRNA 分子上。最近的研究表明，编码 ARS 的基因突变会导致神经变性，从而引发了许多关于这些酶（以及一般的蛋白质合成）在神经元功能中的作用的问题。在这篇综述中，我们总结了与 ARS 编码基因突变相关的遗传疾病的当前知识，讨论了这些疾病的潜在致病机制，并指出了未来可能的研究领域，这些领域将促进我们对 ARS 作用的理解在遗传疾病中。