BRG1 is a biomarker of hypertrophic cardiomyopathy in human heart specimens

Jacob C. Scherba, Marc K. Halushka, Nicholas D. Andersen, Joseph J. Maleszewski, Andrew P. Landstrom, Nenad Bursac, Carolyn Glass

Research output: Contribution to journalArticlepeer-review


Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomere that causes otherwise unexplained cardiac hypertrophy and is associated with sudden death. While previous studies showed the role of the epigenetic modifier Brg1 in mouse models of HCM, additional work is needed to identify its role in humans. We tested the hypothesis that BRG1 expression is increased in periods of cardiac remodeling during fetal growth and in development of HCM. We employed immunohistochemical staining to evaluate protein expression of BRG1 in 796 human cardiac specimens (81 from patients with HCM) and describe elevated BRG1 expression in human fetal hearts in early development. In addition, we not only demonstrate increased expression of BRG1 in HCM, but we also show that other diseases that lead to heart failure have similar BRG1 expression to healthy controls. Inhibition of BRG1 in human induced pluripotent stem cell-derived cardiomyocytes significantly decreases MYH7 and increases MYH6, suggesting a regulatory role for BRG1 in the pathological imbalance of the two myosin heavy chain isoforms in human HCM. These data are the first demonstration of BRG1 as a specific biomarker for human HCM and provide foundation for future studies of epigenetics in human cardiac disease.

Original languageEnglish (US)
Article number7996
JournalScientific reports
Issue number1
StatePublished - Dec 2022

ASJC Scopus subject areas

  • General


Dive into the research topics of 'BRG1 is a biomarker of hypertrophic cardiomyopathy in human heart specimens'. Together they form a unique fingerprint.

Cite this