Sheila Marte

Mentor: Antonellis
Genetics and Genomics

Areas of Interest

I am interested in studying aminoacyl tRNA synthetases (ARS), a group of enzymes that are responsible for charging tRNA with its cognate amino acid. Although these enzymes are ubiquitously expressed and essential for protein translation, several ARS enzymes have been implicated in a dominant Charcot Marie Tooth disease (CMT), a motor and sensory peripheral neuropathy. Interestingly, there is severe phenotypic variability among patients. First, different mutations in the same ARS gene result in distinct clinical phenotypes and second, family members carrying the same mutation may vary in phenotype severity and age of onset. My research will focus on addressing the molecular mechanism of ARS-related CMT and the clinical heterogeneity that is frequently observed in this disorder.