What Happens if There is a Mutation in Aminoacyl tRNA Synthetases?
Mutations in aminoacyl tRNA synthetases can have severe implications for cellular function. For example, missense mutations might reduce the enzyme's ability to bind its respective amino acid or tRNA, leading to misincorporation of amino acids and defective proteins. Such mutations can cause a range of disorders, including neurodegenerative diseases like Charcot-Marie-Tooth disease and some forms of cancer. Understanding these mutations helps in diagnosing and potentially treating such conditions.
