Single-cell transcriptomics provides insights into hypertrophic cardiomyopathy

Martijn Wehrens, Anne E de Leeuw, Maya Wright-Clark, Joep E C Eding, Cornelis J Boogerd, Bas Molenaar, Petra H van der Kraak, Diederik W D Kuster, Jolanda van der Velden, Michelle Michels, Aryan Vink, Eva van Rooij

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgaveArtikelWetenschappelijkpeer review

17 Citaten (Scopus)

Samenvatting

Hypertrophic cardiomyopathy (HCM) is a genetic heart disease that is characterized by unexplained segmental hypertrophy that is usually most pronounced in the septum. While sarcomeric gene mutations are often the genetic basis for HCM, the mechanistic origin for the heterogeneous remodeling remains largely unknown. A better understanding of the gene networks driving the cardiomyocyte (CM) hypertrophy is required to improve therapeutic strategies. Patients suffering from HCM often receive a septal myectomy surgery to relieve outflow tract obstruction due to hypertrophy. Using single-cell RNA sequencing (scRNA-seq) on septal myectomy samples from patients with HCM, we identify functional links between genes, transcription factors, and cell size relevant for HCM. The data show 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 that can eventually contribute to the development of enhanced therapies.

Originele taal-2Engels
Pagina's (van-tot)110809
TijdschriftCell Reports
Volume39
Nummer van het tijdschrift6
DOI's
StatusGepubliceerd - 10 mei 2022

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