Type of CHD | miRNA | Source | Level of expression | Role in cardiac function |
---|---|---|---|---|
VSD | hsa-miR-222-3p | Plasma | Downregulated | Regulation of the target gene GATA4 transcription factor, essential in heart development |
hsa-miR-433 | Plasma | Downregulated | Modulation of GATA3 and NOTCH1 related to ventricular development | |
hsa-miR-487b | Plasma | Downregulated | Remodelling of the aorta by targeting the vasoactive insulin receptor substrate 1 in arterial wall | |
Has-miR-155-5p | Plasma | Downregulated | Unknown. Levels dysregulated in hypertrophic cardiomyopathy | |
TOF | miR-421 | RV tissue | Upregulated | Inverse correlation with SOX4 expression, a key regulator of NOTCH and Wnt pathways, which regulate heart development |
miR-222 | Myocardium | Upregulated | Regulation of target genes NKX 2.5, TBX5, GATA4, MHC involved in cardiomyocyte differentiation | |
miR424-424* | Myocardium | Upregulated | Involvement in cell migration, cardiac morphogenesis and outflow tract septation by targeting NF1 and HAS2 genes | |
TOF, ASD, VSD | miR196a2 | Myocardium | Upregulated | Upstream regulator of HOXB8 and Sonic Hedgehog (Shh) pathway, required throughout cardiac septation to valve formation |
CHD, congenital heart disease; TOF, tetralogy of Fallot.