Cellular Diversity in Congenital Heart Disease

In this episode of The APS Publications Podcast, Dr. Richa Tambi and Dr. Binte Zehra discuss the recently published research in Physiological Genomics titled "Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease."

 

NEW & NOTEWORTHY Congential heart disease (CHD) is one of the most prevalent neonatal congenital anomalies. We present a comprehensive analysis combining genomics and CHD single-cell transcriptome. Our study identifies 90 potential candidate CHD risk genes of which 6 are novel. The risk genes have heterogenous expression suggestive of multiple genes contributing to the phenotypic heterogeneity of CHD. Cardiomyocytes and endocardial cells are identified as major CHD-related cell types.

 

Richa Tambi, Binte Zehra, Sharon Nandkishore, Shermin Sharafat, Faiza Kader, Nasna Nassir, Nesrin Mohamed, Awab Ahmed, Reem Abdel Hameid, Samah Alasrawi, Martina Brueckner, Wolfgang M. Kuebler, Wendy K. Chung, Alawi Alsheikh-Ali, Roberto M. Di Donato, Mohammed Uddin, and Bakhrom K. Berdiev Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease Physiological Genomics, published November 17, 2023  DOI: 10.1152/physiolgenomics.00070.2023