New genetic finding sheds light on congenital heart disease

Neuer genetischer Befund gibt Aufschluss über angeborene Herzfehler

VGLL4 deletion resulted in perinatal lethality: (A) Vgll4 gene structure showing the mutated Vgll4 allele. Green and red letters indicate wild-type and d46 mutant amino acid sequences, respectively; * indicates a premature stop codon; (B) Distribution of genotypes at E16.5, E18.5 and P0. Embryo/pup counts for each genotype are shown in the bar graph. **, Mendelian chi-square test, p cells (2022). DOI: 10.3390/cells11182832

A new study led by the Masonic Medical Research Institute and published in the journal cells shows for the first time that a specific gene called VGLL4 is required for embryonic development but is dispensable for myocardial growth. This fact was previously unknown, and with this discovery, medical researchers now have useful new information about how heart cells develop.

Congenital heart defects are a major cause of pediatric morbidity and mortality, making it important to unravel the molecular mechanisms that control heart development. Cardiovascular development has become a crucial element in understanding congenital heart disease, and the more we know about it, the better we can treat heart defects.

“Vestigial like family member 4” is a protein encoded by the VGLL4 gene; This is a transcription cofactor of the VGLL family found in many organs and tissues. VGLL4 has been identified as a tumor suppressor and has been extensively explored in cancer studies.

To understand VGLL4 function in the heart, the authors generated two VGLL4 loss-of-function mouse lines: a germline VGLL4 depletion allele and a cardiomyocyte-specific VGLL4 depletion allele. Analysis of the embryos revealed that VGLL4 knockout embryos had reduced body size, malformed tricuspid valves, but normal myocardium and cardiac function.

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

Cell-to-cell signals in the developing heart

More information:
Caroline Sheldon et al, Depletion of VGLL4 causes perinatal lethality without affecting myocardial development, cells (2022). DOI: 10.3390/cells11182832

Provided by the Masonic Medical Research Institute

Citation: New Genetic Finding Sheds Light on Congenital Heart Disease (2022 September 21) Retrieved September 21, 2022 from

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