Tracking Defects Caused by Brain Tumor Mutation Yields Insight to Advance Targeted Therapy

The most common childhood brain tumor may soon be treated with targeted therapies, thanks to new research that has broken ground on determining the genetic causes of the condition. Scientists from St. Jude Children’s Research Hospital published a study in the Journal of Molecular Biology reporting that mutated strains of the gene DDX3X caused molecular defects commonly associated with medulloblastoma — the most commonly diagnosed type of pediatric brain cancer in the nation. By targeting this gene defect as the source of the cancer, collateral damage from chemotherapy and radiation can be avoided by creating custom-tailored treatments for the condition, which helps to improve survivability and avoid extraneous side effects or damage. “Putting the mutant proteins into the yeast model identified which defects were harmful and provided insight into the DDX3X protein function,” said the lead author of the study. “We know from previous studies that the fission yeast version of DDX3X is thought to play a role in translation of key regulatory proteins, possibly by helping untangle parts of the RNA molecule.” To learn more about this study, click here.