Scientists find defects caused by brain tumor mutations

Janet Partridge and Eric Enemark

Understanding how genetic changes disrupt cell function is a key step in developing better cancer treatments. Researchers use the details to target defects that support cancer cells. The goal is to create precise treatments that save lives with fewer side effects.

Scientists from St. Jude Children’s Research Hospital joined forces to find defects caused by two mutations in the DDX3X gene.

The findings built on earlier work from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project. That study found that DDX3X is often altered in patients with medulloblastoma, particularly those with the WNT subtype of the brain tumor.

Medulloblastoma is the most common childhood brain tumor. For decades, doctors treated medulloblastoma as a single disease, even though it has four different subtypes. Thanks in part to St. Jude researchers that is changing. The latest findings may help advance those efforts.

“The defects we found could provide the basis for developing specific therapies for patients with these mutations,” said Eric Enemark, PhD, of St. Jude Structural Biology.

He and Janet Partridge, PhD, Pathology, led the research. The study appeared in the Journal of Molecular Biology.

May 8, 2015

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