🧬 How HMGN1 Gene Hijacks the Heart in Trisomy 21 (Down's Syndrome) ❤️🫀🔁

Dr RR Baliga's "Got Knowledge Doc" Podkast

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3d ago 3:46

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🚨 New in Nature 🧬: Groundbreaking study reveals how HMGN1, a dosage-sensitive epigenetic regulator on chromosome 21, reprograms atrioventricular cardiomyocytes into a ventricular fate—driving congenital heart defects in Down syndrome 💔🫀.

Using hiPSCs, single-cell RNA sequencing, and a CRISPRa CROP-seq screen, researchers pinpoint HMGN1 as a causal gene. Strikingly, reducing its dosage in a trisomy 21 mouse model reversed ventricular septal defects (VSDs) 🔧🐭.

This is a model for dissecting aneuploidy-associated disease using human cells + in vivo rescue. Epigenetics meets cardiogenesis in real time. Don't miss this paradigm-shifting work!

📖 DOI: 10.1038/s41586-025-09593-9

#DownSyndrome #Cardiology #Epigenetics #CRISPR #scRNAseq #HMGN1 #CongenitalHeartDefects #StemCells #Nature #GeneDosage #PrecisionMedicine

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