Laboratory of Laboratory Animal Science and Medicine, Kitasato University, 35-1, Higashi-23, Towada 034-8628, Aomori, Japan.
Genes (Basel). 2024 Jul 8;15(7):894. doi: 10.3390/genes15070894.
Aminoacyl-tRNA synthetases are essential enzymes for the accurate translation of genetic information. IARS1 and IARS2 are isoleucyl-tRNA synthetases functioning in the cytoplasm and mitochondria, respectively, with genetic mutations in these enzymes causing diverse clinical phenotypes in specific organs and tissues. Mutations in and have recently been linked to mitochondrial diseases. This review aims to explore the relationship between IARS1 and IARS2 and these diseases, providing a comprehensive overview of their association with mitochondrial diseases. Mutations in cause weak calf syndrome in cattle and mitochondrial diseases in humans, leading to growth retardation and liver dysfunction. Mutations in are associated with Leigh syndrome, craniosynostosis and abnormal genitalia syndrome. Future research is expected to involve genetic analysis of a larger number of patients, identifying new mutations in and , and elucidating their impact on mitochondrial function. Additionally, genetically modified mice and the corresponding phenotypic analysis will serve as powerful tools for understanding the functions of these gene products and unraveling disease mechanisms. This will likely promote the development of new therapies and preventive measures.
氨酰-tRNA 合成酶是准确翻译遗传信息所必需的酶。IARS1 和 IARS2 分别是细胞质和线粒体中的异亮氨酰-tRNA 合成酶，这些酶的基因突变导致特定器官和组织中表现出不同的临床表型。 和 中的突变最近与线粒体疾病有关。本文旨在探讨 IARS1 和 IARS2 与这些疾病的关系，全面概述它们与线粒体疾病的关联。 在牛中引起弱小牛综合征和人类的线粒体疾病，导致生长迟缓和肝功能障碍。 在 Leigh 综合征、颅缝早闭和生殖器异常综合征中起作用。预计未来的研究将涉及对更多患者进行基因分析，鉴定 和 中的新突变，并阐明它们对线粒体功能的影响。此外，基因修饰小鼠及其相应的表型分析将成为理解这些基因产物功能和揭示疾病机制的有力工具。这可能会促进新疗法和预防措施的发展。
