Kids with myelodysplastic syndromes don’t make enough blood cells in their bone marrow. They are at higher risk for leukemia. Some young patients also inherit mutations in the genes SAMD9 and SAMD9L.
St. Jude scientists worked with researchers in Europe to explore the connections.
They reviewed the world’s largest registry of children with myelodysplastic syndromes. Eight percent of patients had SAMD9 and SAMD9L mutations in blood cells. That makes the mutations one of the most common causes of the syndromes.
Researchers found evidence the mutant genes were not welcome. The SAMD9 and SAMD9L mutations were inactivated or suppressed in 61% of patients who carried them through a process that served as natural gene therapy. Sometimes the changes were benign and reduced the health risks. In others, the alterations increased the risk. Some patients had blood cells with both good and bad genetic changes competing for dominance.
“Our studies lay the groundwork to explore the process in detail. We want to see how we might be able to manipulate SAMD9 and SAMD9L genes to the advantage of the patients,” said Marcin Wlodarski, MD, PhD, of St. Jude Hematology. “The dream is to use the knowledge to use gene therapy to rescue patients.”
Nature Medicine published a report on this research.