Errors during mRNA translation can lead to a reduction in the levels of functional proteins and an increase in deleterious molecules. Advances in next-generation sequencing have led to the discovery of rare genetic disorders, many caused by mutations in genes encoding the mRNA translation machinery, as well as to a better understanding of translational dynamics through ribosome profiling. We discuss here multiple neurological disorders that are linked to errors in tRNA aminoacylation and ribosome decoding. We draw on studies from genetic models, including yeast and mice, to enhance our understanding of the translational defects observed in these diseases. Finally, we emphasize the importance of tRNA, their associated enzymes, and the inextricable link between accuracy and efficiency in the maintenance of translational fidelity.

mRNA 翻译过程中的错误会导致功能蛋白水平的降低和有害分子的增加。下一代测序的进步导致了罕见遗传疾病的发现，其中许多是由编码 mRNA 翻译机制的基因突变引起的，以及通过核糖体分析更好地理解翻译动力学。我们在这里讨论与 tRNA 氨酰化和核糖体解码错误有关的多种神经系统疾病。我们利用来自包括酵母和小鼠在内的遗传模型的研究，以增强我们对在这些疾病中观察到的转化缺陷的理解。最后，我们强调了 tRNA 及其相关酶的重要性，以及在维持翻译保真度方面的准确性和效率之间不可分割的联系。