Skip to main content

Early research funded by CTF has led to breakthroughs in schwannomatosis research

By August 23, 2017December 18th, 2023Publications, Science & Research, SWN

Early research funded by the Children’s Tumor Foundation has led to developments in schwannomatosis research. One award (2008) was for the development of the first mouse model for schwannomatosis with the same underlying gene mutations found in schwannomatosis patients. The second award (2011) was to support their use in a screening platform for schwannomatosis therapeutic agents.

The output of both studies contributed to the animal model generation. UCLA researchers have discovered that timing is everything when it comes to preventing a specific gene mutation (Smarcb1) in mice from developing rare and fast-growing cancerous tumors, called malignant rhabdoid tumors, which also affects young children. This mutation can also cause a benign tumor condition in humans in adulthood.

The scientists found that when one tumor suppressor gene is turned off or inactivated during early stages of a developing mouse embryo, it induces the formation of a malignant tumor. The research demonstrates that this type of malignant tumor will not form if the gene is inactivated during later stages of nerve development. However, when the gene is inactivated during later stages of nerve development and the Nf2 gene is also inactivated, benign tumors as the ones developed by schwannomatosis patients, develop in older mice.

The research, led by Dr. Marco Giovannini, a member of UCLA’s Jonsson Comprehensive Cancer Center and senior author of the study, is the first of its kind to analyze the functional role of mutations in a mouse model with both tumor suppressor genes known as SMARCB1 and NF2.

Read more about the study and the results in the UCLA Research Alert. The full article was published in Nature Communications, an open access journal that publishes high-quality research in biology, physics, chemistry, Earth sciences, and all related areas. Read the article here.