New genetic discovery improves understanding of congenital heart disease

A new study by the Masonic Medical Research Institute published in the journal Cells shows for the first time that a particular gene, called VGLL4, is necessary for embryonic development but is essential for myocardial growth. This fact was previously unknown, and with this discovery, medical researchers now have useful new information about heart cell development, useful for our understanding of congenital heart defects and heart failure.

Why it matters: Congenital heart disease is one of the leading causes of pediatric morbidity and mortality, which is why it’s important to decipher the molecular mechanisms that control heart development. Cardiovascular development has become a crucial part of understanding congenital heart disease, and the more we know about it, the better we can treat heart defects.

Background: “Vestigial like family member 4” is a protein encoded by the VGLL4 gene; it is a transcriptional cofactor of the VGLL family, present in many organs and tissues. VGLL4 has been identified as a tumor suppressor, and it has been extensively researched in cancer studies.

Study Summary: To understand the function of VGLL4 in the heart, the authors generated two strains of mice with loss of VGLL4 function: a germline VGLL4 depletion allele and a germline-specific VGLL4 depletion allele. cardiomyocytes. Embryo analysis revealed that VGLL4 knockout embryos had reduced body size, malformed tricuspid valves, but normal myocardium and normal heart function. Read the full article from cellslink here:

What’s new here: This is a newly discovered feature about VGLL4; this protein is necessary for embryonic development, but this function is independent and isolated from the growth of the myocardial wall of the heart.

Team authors: Caroline Sheldon, Aaron Farley, Qing Ma, William Pu, and Zhiqiang Lin. Dr. Zhiqiang Lin led the team, he is a senior researcher at the Masonic Institute for Medical Research. The research team includes colleagues from the Harvard Stem Cell Institute and Boston Children’s Hospital. Dr Lin co-authored a previous study on VGLL4 in 2016, also with Dr Pu and Dr Ma.


Masonic Institute for Medical Research

Journal reference:

Sheldon, C. et al. (2022) VGLL4 depletion causes perinatal lethality without affecting myocardial development. Cells.

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