Blanco receives NCI grant to study prevention of drug-related cardiotoxicity in children with Down syndrome and acute myeloid leukemia

Children with Down syndrome (trisomy 21) have a reported ten- to twenty-fold increased risk of developing acute myeloid leukemia (AML). Current treatments using anthracycline drugs achieve good results, however these children are also at high risk for treatment-related side effects, including anthracycline cardiotoxicity.

The funded project, entitled “Evaluation of myocardial targets to prevent anthracycline cardiotoxicity in children with Down syndrome and leukemia,” will delineate the contribution of selected candidate genes and proteins to anthracycline cardiotoxicity using model cardiac cells with trisomy 21 and samples of heart tissue from persons with Down syndrome.

Previous work from Blanco’s group has shown that the expression of specific chromosome 21 genes is altered in the cardiac muscle tissue of individuals with Down syndrome. 

“For the past ten years, our team has been characterizing molecular determinants for the increased risk of anthracycline-related cardiotoxicity experienced by pediatric patients with acute leukemias and Down syndrome,” says Blanco, Principal Investigator on the project. “Results of these integrative studies will provide new data for the design of novel pharmacological interventions to prevent the development of cardiotoxicity in children with Down syndrome and AML.”

Additional contributors include Dr. Adolfo Quiñones-Lombraña, a former post-doctoral researcher in the Blanco Lab, and post-doctoral associate Dr. Romina Cejas.