Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by unexplained segmental hypertrophy, most notably in the septum. While sarcomeric gene mutations are frequently the genetic basis for HCM, the mechanistic origin of heterogeneous remodeling is still unknown.
unknown. A better understanding of the gene networks responsible for cardiomyocyte (CM) hypertrophy is required.
necessary to improve therapeutic strategies Patients with HCM frequently undergo septal myectomy surgery to relieve outflow tract obstruction caused by hypertrophy. RNA sequencing in single cells (scRNA-seq)
We discovered functional links between genes, transcription factors, and cell size in septal myectomy samples from HCM patients.
The findings demonstrate the utility of using scRNA-seq on the human hypertrophic heart, highlight CM heterogeneity, and provide a wealth of insights into molecular events involved in HCM, which can eventually lead to the development of improved therapies.
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