Maria Fernanda Montiel

Genetic recoding by RNA editing occurs in the nervous system of all higher metazoans. Enzymes in the ADAR family (Adenosine Deaminases that Act on RNA) convert specific adenosine residues to inosine which are read as guanosine by the translational machinery. Sometimes causes codons to change within mRNAs, resulting in proteins with altered function. From the perspective of genetic engineering, RNA editing could be an important tool. For example, many genetic diseases are caused by mutations that introduce premature stop codons (UAA, UAG, and UGA). In theory, these mutations could be corrected by adenosine deamination (UGG). My project focuses on ways to manipulate ADARs substrate recognition so that it edits mutant adenosines that underlie human disorders.