Towbin receives NIH grant to study modifier genes in cardiomyopathy

Reviewed by Emily Henderson, B.Sc.Jun 26 2020

Jeffrey A. Towbin, MD, of Le Bonheur Children's Hospital and the University of Tennessee Health Science Center was awarded a Research Project Grant (R01) from the National Institutes of Health (NIH) with co-principal investigators Enkhsaikha Purevjav, MD, PhD and Lu Lu, MD, MS. He is lead principal investigator on the project "Discovery of Modifier Genes in Cardiomyopathy."

The objective of this study is to identify the modifier genes that alter the expression of myopalladin (MYPN), the gene that affects the type and severity of cardiomyopathy - an inherited disease of the heart muscle that ultimately results in heart failure, transplant or sudden cardiac death in many patients. The project will examine how different genetic backgrounds effect the mutation of the MYPN gene which determines how cardiomyopathy is expressed in children. The study will use system genetics - an approach to understanding complex diseases by focusing on how genes work together rather than individually.

Despite decades of research, it's still difficult to predict how cardiomyopathy will present in a clinical setting. We believe that the likely reason for this is that the interaction of multiple genes - not just a single one - determines the course of the disease."

Jeffrey A. Towbin, MD, Le Bonheur Children's Hospital and the University of Tennessee Health Science Center

Previous research has screened adult and pediatric patients with various types of cardiomyopathy and identified MYPN as a strong causal gene associated a wide variety of severity of cardiomyopathy. Patients had diagnoses ranging from asymptomatic left ventricular hypertrophy to dilation with progressive heart failure to sudden cardiac death or transplant.

"Cardiomyopathy symptoms can be highly varied even within the same family who have identical genetic mutations," said Towbin.

Identifying modifier genes is now a crucial goal of research in cardiomyopathies. Results of this study would change cardiomyopathy care in terms of diagnosis, treatment and genetic counseling.

Towbin is conducting this research in conjunction with co-investigator Robert Williams, PhD, professor and chair of the Department of Genetics, Genomics and Informatics at UTHSC.