Protein translation is a tightly regulated cellular process that is essential for gene expression and protein synthesis. The deregulation of this process is increasingly recognized as a critical factor in the pathogenesis of various human diseases. In this review, we discuss how deregulated translation can lead to aberrant protein synthesis, altered cellular functions, and disease progression. We explore the key mechanisms contributing to the deregulation of protein translation, including functional alterations in translation factors, tRNA, mRNA, and ribosome function. Deregulated translation leads to abnormal protein expression, disrupted cellular signaling, and perturbed cellular functions- all of which contribute to disease pathogenesis. The development of ribosome profiling techniques along with mass spectrometry-based proteomics, mRNA sequencing and single-cell approaches have opened new avenues for detecting diseases related to translation errors. Importantly, we highlight recent advances in therapies targeting translation-related disorders and their potential applications in neurodegenerative diseases, cancer, infectious diseases, and cardiovascular diseases. Moreover, the growing interest lies in targeted therapies aimed at restoring precise control over translation in diseased cells is discussed. In conclusion, this comprehensive review underscores the critical role of protein translation in disease and its potential as a therapeutic target. Advancements in understanding the molecular mechanisms of protein translation deregulation, coupled with the development of targeted therapies, offer promising avenues for improving disease outcomes in various human diseases. Additionally, it will unlock doors to the possibility of precision medicine by offering personalized therapies and a deeper understanding of the molecular underpinnings of diseases in the future.

蛋白质翻译是一个严格调控的细胞过程，对于基因表达和蛋白质合成至关重要。人们越来越认识到这一过程的放松管制是各种人类疾病发病机制的关键因素。在这篇综述中，我们讨论了翻译失调如何导致蛋白质合成异常、细胞功能改变和疾病进展。我们探索导致蛋白质翻译失调的关键机制，包括翻译因子、tRNA、mRNA 和核糖体功能的功能改变。翻译失调会导致蛋白质表达异常、细胞信号传导中断和细胞功能紊乱——所有这些都会导致疾病发病机制。核糖体分析技术的发展以及基于质谱的蛋白质组学、mRNA 测序和单细胞方法为检测与翻译错误相关的疾病开辟了新的途径。重要的是，我们强调了针对翻译相关疾病的治疗的最新进展及其在神经退行性疾病、癌症、传染病和心血管疾病中的潜在应用。此外，人们对旨在恢复对患病细胞翻译的精确控制的靶向治疗也越来越感兴趣。总之，这篇全面的综述强调了蛋白质翻译在疾病中的关键作用及其作为治疗靶点的潜力。对蛋白质翻译失调分子机制的理解的进步，加上靶向治疗的发展，为改善各种人类疾病的疾病结果提供了有希望的途径。此外，它将通过提供个性化治疗和对未来疾病的分子基础的更深入了解，开启精准医学的可能性之门。