MARS (gene)
MARS is a human gene that encodes for methionyl-tRNA synthetase, cytoplasmic. This enzyme, also known as MetRS, belongs to the aminoacyl-tRNA synthetase family. These enzymes are essential for protein synthesis, as they catalyze the aminoacylation of tRNA molecules by their cognate amino acids. In the case of MARS, the enzyme specifically attaches methionine to its corresponding tRNA molecule, tRNAMet.
Methionyl-tRNA synthetase is a crucial component of the protein translation machinery. It ensures the accurate incorporation of methionine into nascent polypeptide chains. Methionine is not only an essential amino acid but also serves as the initiator amino acid in eukaryotic translation, beginning the synthesis of nearly all proteins.
Mutations in the MARS gene have been linked to several human diseases, particularly neurological disorders. These mutations can impair the function of MetRS, leading to disruptions in protein synthesis and cellular dysfunction. Some identified disorders associated with MARS mutations include Charcot-Marie-Tooth disease (CMT), a group of inherited disorders affecting the peripheral nerves. The specific types of CMT associated with MARS mutations often involve axonal neuropathy.
The protein encoded by MARS is located in the cytoplasm. Alternative splicing of the MARS gene can result in multiple transcript variants encoding different isoforms of the protein, potentially with subtly different functions or cellular localization. Further research is ongoing to fully understand the roles of different MARS isoforms and the precise mechanisms by which mutations in the gene lead to disease. The structure and function of MetRS have been extensively studied, providing insights into its catalytic mechanism and interactions with tRNAMet. Understanding the molecular basis of MARS-related diseases is critical for developing potential therapeutic interventions.