Researchers have identified that a mutated form of SHP2 in NSML binds to a protein that recruits c-Src, a tyrosine kinase, initiating a cascade that boosts transcription factors vital for heart development, ultimately reducing BMP10 levels essential for healthy heart muscle structure.

NSML is caused by mutations in the SHP2 gene, which shift its role from enzymatic activity to acting as a scaffolding platform that recruits other proteins, disrupting normal cell signaling.

This genetic mutation leads to severe hypertrophic cardiomyopathy, a form of heart muscle thickening that is a leading cause of death among newborns with NSML, as identified by researchers at Yale School of Medicine.

Importantly, inhibiting c-Src with the leukemia drug dasatinib has been shown in mouse models to restore BMP10 levels and prevent abnormal activation of transcription factors, suggesting a promising treatment strategy.

Building on these findings, future clinical trials are planned to explore targeting the c-Src pathway with dasatinib as a potential therapy for heart defects associated with NSML.