New Research Identifies Proteins Essential for Heart Function

A recent groundbreaking study conducted by researchers at the Masonic Medical Research Institute (MMRI) has revealed that two closely related proteins, RBPMS and RBPMS2, work together to maintain proper heart function by regulating genetic processes essential for heart development. These proteins play a vital role in a process called splicing, where segments of a gene's RNA are rearranged or skipped to produce different versions of proteins necessary for healthy heart muscle activity.

Disruptions in this splicing process are known to cause serious heart conditions, including cardiomyopathies and congenital heart defects. Although it was suspected that multiple splicing factors cooperate during heart development, their exact functions remained unclear.

The MMRI team, led by Dr. Tongbin Wu, used advanced genetic models to investigate the roles of RBPMS and RBPMS2 in heart cells. They discovered that deleting both proteins from cardiomyocytes resulted in embryonic death and severe defects in the heart's structure, indicating these proteins are critical. In contrast, removing either one alone did not significantly affect survival or heart function.

"This study highlights that these splicing factors need to work together to safeguard heart development," said Dr. Wu. "They ensure that genes vital for cardiac contraction are accurately spliced, preventing errors that could lead to heart disease."

Further analysis using RNA sequencing revealed that RBPMS and RBPMS2 promote heart-specific splicing programs while suppressing non-cardiac genes, maintaining the heart’s unique molecular identity. The study also found that the binding positions of these proteins on RNA determine whether they activate or repress splicing.

This research offers hope for improving outcomes in children born with congenital heart disease and adults with dilated cardiomyopathy. Understanding the collaborative network of these splicing factors paves the way for developing new therapeutic strategies, affirming MMRI’s leadership in cardiovascular research.

Source: https://medicalxpress.com/news/2025-08-uncovers-key-proteins-heart-properly.html