Role of Mutations of Mitochondrial Aminoacyl-tRNA Synthetases Genes on Epileptogenesis

Mitochondria are the structures in cells that are responsible for producing energy. They contain a specific translation unit for synthesizing mitochondria-encoded respiratory chain components: the mitochondrial DNA (mt DNA). Recently, a growing number of syndromes associated with the dysfunction of mt DNA translation have been reported. However, the functions of these diseases still need to be precise and thus attract much attention. Mitochondrial tRNAs (mt tRNAs) are encoded by mt DNA; they are the primary cause of mitochondrial dysfunction and are associated with a wide range of pathologies. Previous research has shown the role of mt tRNAs in the epileptic mechanism. This review will focus on the function of mt tRNA and the role of mitochondrial aminoacyl-tRNA synthetase (mt aaRS) in order to summarize some common relevant mutant genes of mt aaRS that cause epilepsy and the specific symptoms of the disease they cause.

Automated summary

Mitochondria play a vital role in cellular energy production and contain mitochondrial DNA (mt DNA) responsible for synthesizing respiratory chain components. Dysfunctions in mt DNA translation have been linked to various syndromes, but their precise mechanisms and implications remain to be determined. Mitochondrial tRNAs (mt tRNAs) encoded by mt DNA are known to contribute to mitochondrial dysfunction and are associated with a wide range of pathologies, including epilepsy. This review focuses on the function of mt tRNA and the role of mitochondrial aminoacyl-tRNA synthetase (mt aaRS) in summarizing common mt aaRS mutant genes causing epilepsy and the specific symptoms associated with these diseases.