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Transcriptome studies of congenital heart diseases: identifying current gaps and therapeutic frontiers
Nkechi Martina Odogwu1, Clinton Hagen1, Timothy J Nelson1,2,3,4,5
1Program for Hypoplastic Left Heart Syndrome, Mayo Clinic, Rochester, MN, United States.
Insights
Congenital heart disease (CHD) research benefits from transcriptome studies, revealing molecular signatures and biological pathways. Future advances require integrating model systems and advanced RNA-seq analysis for novel therapies.
Area of Science:
- Genetics and Molecular Biology
- Developmental Biology
- Cardiovascular Research
Background:
- Congenital heart disease (CHD) encompasses genetically complex structural defects leading to early heart failure, a major cause of neonatal mortality.
- Existing transcriptome studies in pediatric CHD patients reveal diverse molecular signatures across different defect types.
Purpose of the Study:
- To conduct a detailed review of transcriptome studies on congenital heart diseases (CHDs).
- To identify gaps in the literature concerning cardiac transcriptome signatures in various CHDs and biological specimens.
- To examine transcriptomic analyses in both human subjects and model systems.
Main Methods:
- Comprehensive literature review of transcriptome studies in congenital heart diseases (CHDs).
- Analysis of data from human pediatric patients, induced pluripotent stem cells (iPSCs), and animal models.
- Evaluation of RNA-sequencing (RNA-seq) technology's impact and limitations.
Main Results:
- Transcriptome studies have highlighted diverse molecular signatures across various CHDs.
- RNA-seq technology has significantly advanced CHD research, uncovering biological pathways relevant to cardiac development.
- Gaps identified include challenges in obtaining pediatric cardiac tissue and the lack of spatial context in model systems.
Conclusions:
- Transcriptome studies offer insights into biological pathways underlying CHD, informing potential therapeutic strategies.
- Overcoming challenges like sample acquisition and model system limitations is crucial.
- Integrating advanced RNA-seq, model systems, and computational algorithms will drive future discoveries in CHD research.
Abstract:
Congenital heart disease (CHD) are genetically complex and comprise a wide range of structural defects that often predispose to - early heart failure, a common cause of neonatal morbidity and mortality. Transcriptome studies of CHD in human pediatric patients indicated a broad spectrum of diverse molecular signatures across various types of CHD. In order to advance research on congenital heart diseases (CHDs), we conducted a detailed review of transcriptome studies on this topic. Our analysis identified gaps in the literature, with a particular focus on the cardiac transcriptome signatures found in various biological specimens across different types of CHDs. In addition to translational studies involving human subjects, we also examined transcriptomic analyses of CHDs in a range of model systems, including iPSCs and animal models. We concluded that RNA-seq technology has revolutionized medical research and many of the discoveries from CHD transcriptome studies draw attention to biological pathways that concurrently open the door to a better understanding of cardiac development and related therapeutic avenue. While some crucial impediments to perfectly studying CHDs in this context remain obtaining pediatric cardiac tissue samples, phenotypic variation, and the lack of anatomical/spatial context with model systems. Combining model systems, RNA-seq technology, and integrating algorithms for analyzing transcriptomic data at both single-cell and high throughput spatial resolution is expected to continue uncovering unique biological pathways that are perturbed in CHDs, thus facilitating the development of novel therapy for congenital heart disease.
