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Alanyl—tRNA synthetase 1 (AARS1) is an enzyme that is encoded by the AARS1 gene in humans and is a member of the aminoacyl-tRNA synthetases (ARSs) family of enzymes.[1]
Clinical significance
editCharcot-Marie-Tooth Disease type 2 (CMT2) and other peripheral neuropathies have been linked to mutations in the AARS1, GARS1, HARS1, WARS1, and YARS1 genes.[2] Mutations in these genes can encode for faulty aminoacyl-tRNA synthetases, disrupting their ability to charge tRNA with its corresponding amino acids which leads to impaired protein synthesis. In AARS1, mutations are associated with both autosomal dominant and recessive forms of CMT2.[3]
References
edit- ^ "AARS1 alanyl-tRNA synthetase 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-11-25.
- ^ Høyer, Helle; Busk, Øyvind L.; Esbensen, Q. Ying.; Røsby, Oddveig; Hilmarsen, Hilde T.; Russell, Michael B.; Nyman, Tuula A.; Braathen, Geir J.; Nilsen, Hilde L. (2022-08-15). "Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation". BMC Neurology. 22 (1): 299. doi:10.1186/s12883-022-02828-6. ISSN 1471-2377. PMC 9377087. PMID 35971119.
- ^ Nam, Da Eun; Park, Jin Hee; Park, Cho Eun; Jung, Na Young; Nam, Soo Hyun; Kwon, Hye Mi; Kim, Hyun Su; Kim, Sang Beom; Son, Won Seok; Choi, Byung-Ok; Chung, Ki Wha (March 2022). "Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study". Journal of the Peripheral Nervous System. 27 (1): 38–49. doi:10.1111/jns.12476. ISSN 1085-9489. PMID 34813128.