COMPOSITIONS AND METHODS FOR MODULATING MITOCHONDRIAL PYRUVATE CARRIER ACTIVITY

摘要

Disclosed herein are methods and compositions for the diagnosis and treatment of conditions associated with aberrant pyruvate metabolism, and symptoms thereof, in a subject. Disclosed herein are methods of detecting an aberrant pyruvate metabolism- associated condition, and symptoms thereof, in a subject, by the expression level of MPCl or MPC2. Disclosed herein are methods of detecting an aberrant pyruvate metabolism- associated condition, and symptoms thereof, in a subject, by the activity level of MPCl or MPC2. Disclosed herein are methods of determining responsiveness to a treatment for an aberrant pyruvate metabolism associated condition, and symptoms thereof, in a subject.