New research aims to uncover role of genetics in heart damage from chemotherapy in children with Down syndrome

BUFFALO, N.Y. — The University at Buffalo has been awarded a $438,000 grant from the National Cancer Institute to explore the prevention of drug-related heart damage in children with Down syndrome and the blood cancer, acute myeloid leukemia.

The research, led by Javier G. Blanco, PhD, professor in the UB School of Pharmacy and Pharmaceutical Sciences, will investigate the role that genes linked to Down syndrome play in increasing the susceptibility of heart tissue to damage from anticancer drugs.

“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 acute myeloid leukemia,” said Blanco.

Children with Down syndrome are at a heightened risk of developing acute myeloid leukemia. These children are also highly susceptible to cardiotoxicity — or damage to heart muscle — from anthracyclines, a class of effective chemotherapy drugs used to treat leukemias, said Blanco.

Anthracycline-related cardiomyopathy, a condition that makes it difficult for the heart to deliver blood to the body, was discovered in nearly 18% of patients with Down syndrome and acute myeloid leukemia, according to a report from the Children's Oncology Group, a clinical trials group supported by the National Cancer Institute.

Blanco, who has studied the condition for more than 10 years, previously found that the expression of certain genes within chromosome 21, the chromosome linked to Down syndrome, is altered in heart tissue from people with the disorder.

The researchers aim to determine if the expression of these genes also increases vulnerability of heart tissue to anthracyclines and other anticancer drugs.

Additional contributors include UB post-doctoral researcher Romina Cejas, PhD; and Adolfo Quiñones Lombraña, PhD, research assistant professor of pharmaceutical sciences at Long Island University and a former post-doctoral researcher in Blanco’s lab.