Several subtypes of inherited peripheral neuropathy (Charcot-Marie-Tooth disease) are caused by dominant mutations in tRNA synthetase genes, encoding the housekeeping enzymes that charge amino acids onto their cognate tRNAs. Recent work exploring the disease mechanism identified the activation of the integrated stress response (ISR) through the sensor kinase GCN2 as a key contributor to the pathophysiology of at least two tRNA synthetase-associated forms of CMT modeled in mice. These studies have not only improved our understanding of the disease process and progression, they also provide potential therapeutic strategies that we are testing in preclinincal studies.
Neurology/Neuroscience Research Seminar
Room 5515 in BSRB
CME credit is available, click here
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