Aminoacyl-tRNA synthetases are housekeeping enzymes that catalyze the specific attachment of amino acids onto cognate tRNAs, providing building blocks for ribosomal protein synthesis. Owing to the absolutely essential nature of these enzymes, the possibility that mutations in their sequence could be the underlying cause of diseases had not been foreseen. However, we are learning of patients bearing familial mutations in aminoacyl-tRNA synthetases at an exponential rate. In a recent issue of JBC, Jin et al. analyzed the impact of two such mutations in the very special bifunctional human glutamyl-prolyl-tRNA synthetase and convincingly decode how these mutations elicit the integrated stress response.

中文翻译：

---

解码必需氨酰-tRNA合成酶中致病突变的影响。

氨酰-tRNA 合成酶是催化氨基酸特异性附着到同源 tRNA 上的管家酶，为核糖体蛋白质合成提供构建基块。由于这些酶的绝对必要性质，它们序列中的突变可能是疾病的根本原因的可能性尚未预见。然而，我们正在了解以指数速率携带氨酰-tRNA合成酶家族突变的患者。在最近一期的 JBC 中，Jin 等人。分析了两种此类突变对非常特殊的双功能人类谷氨酰-脯氨酰-tRNA合成酶的影响，并令人信服地解码了这些突变如何引发综合应激反应。