Research Identifies How Gene Mechanisms Influence Pediatric MDS

Each year, approximately 1 in every 1 million infants is diagnosed with pediatric myelodysplastic syndromes (MDS), a group of rare disorders characterized by the abnormal or deficient formation of blood cells in the bone marrow. However, researchers wanted to understand the underlying mechanisms behind this condition. In the past, both SAMD9 and SAMD9L mutations have been linked to pediatric MDS; in fact, approximately 8% of pediatric patients with MDS have one of these mutations. According to the University of Texas Health Science Center at San Antonio, a research team recently learned more about the effects of these genes – and identified a potential therapeutic target moving forward.

If you’re interested in reading the full study results, you can find them published in the Proceedings of the National Academy of Sciences (PNAS).


Within this particular study, researchers expanded on prior knowledge of SAMD9 and SAMD9L. Normally, these genes play a role in immune response. They activate upon infection, stop tumor growth, and fight foreign invaders. However, the mutations cause the genes to be overactive – or more constantly activated. Researchers were able to learn that protein synthesis is interrupted in pediatric MDS. The genetic mutations halt or slow down protein synthesis, causing the immune system to not work as well.

Additionally, researchers were able to identify a protein region that could be a future therapeutic target. When active, this region promoted protein synthesis issues. However, when researchers made this region inactive, symptoms and toxicity were reduced. Therefore, researchers hope to focus in on this region in future research. Ultimately, this could help determine new therapeutic options for those with pediatric MDS.

Myelodysplastic Syndromes (MDS)

Altogether, there are five subtypes of myelodysplastic syndromes (MDS): refractory anemia, refractory anemia with sideroblasts, refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and chronic myelomanocytic leukemia. In each case, these conditions prevent the bone marrow from producing enough platelets, or red and white blood cells. These blood cells either die early or fail to leave the bone marrow. In around 50% of cases, MDS progresses to become acute myeloid leukemia (AML). MDS most often occurs in older individuals, and in males more than females. Symptoms include:

  • Anemia (low red blood cell count)
  • Fatigue and general malaise
  • Heart palpitations
  • Shortness of breath and/or difficulty breathing
  • Chest pain
  • Pallor (pale skin)
  • Neutropenia (low white blood cell count)
  • Frequent infections
  • Thrombocytopenia (low platelet count)
  • Easy bruising and bleeding
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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