Methionine--tRNA ligase, cytoplasmic

Summary

MARS1 (methionine–tRNA ligase, cytoplasmic) is an aminoacyl-tRNA synthetase that catalyzes the ATP-dependent attachment of methionine to its cognate tRNA as part of protein translation, and also participates in ribosomal RNA synthesis within the nucleolus (UniProt: P56192). The protein is widely expressed across tissues and is essential for the fidelity of protein synthesis.

Beyond its canonical translational function, MARS1 has been associated with several monogenic disorders affecting the nervous system and other organ systems, including Charcot-Marie-Tooth disease type 2U (axonal neuropathy), spastic paraplegia 70, trichothiodystrophy 9, and interstitial lung and liver disease (UniProt: P56192). These associations suggest roles in neuronal maintenance and cellular energy metabolism.

MARS1 is tagged as disease-associated with Alzheimer's Disease and shows increased expression in post-mortem AD brain tissue compared to age-matched controls (mean log2FC = 0.1661, human AD brain TMT proteomics) (Chaparral AD proteomics). The functional significance of this upregulation in AD pathogenesis remains to be determined.