Christina Del Greco

Mentor: Antonellis
Genetics and Genomics

Areas of Interest

Aminoacyl-tRNA synthetases (ARSs) are essential, ubiquitously expressed enzymes that charge tRNAs with cognate amino acids. Nuclear-encoded mitochondrial ARSs specifically catalyze aminoacylation of tRNA in the mitochondria, which is essential for mitochondrial translation. Out of the 37 total ARSs, 17 function specifically in the mitochondria. Additionally, all 17 mitochondrial ARSs have been implicated in recessive human diseases with a wide range of symptoms including neurological phenotypes, cardiomyopathies, ovarian failure, and renal failure. I am interested in understanding how mitochondrial ARSs cause a wide array of phenotypes, particularly among variants within a single ARS gene. I am also interested in exploring the relationship between mitochondrial-specific ARSs and their corresponding cytosolic counterparts, specifically what makes these enzymes unique from one another.