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A Streamlined Approach for Mass Spectrometry-Based Proteomics Using Selected Tissue Regions
Published on: April 18, 2025
Proteomic-based approaches to cardiac development and disease
Kerry M Dorr1, Frank L Conlon1
1Department of Biology and Genetics, McAllister Heart Institute, UNC-Chapel Hill, Chapel Hill, NC 27599, USA.
Insights
Structural birth defects, particularly congenital heart disease (CHD), are the leading cause of infant mortality. Recent mass spectrometry advancements offer new insights into the molecular basis of CHD, improving clinical approaches.
Area of Science:
- Developmental Biology
- Genetics
- Biochemistry
Background:
- Congenital malformations are the leading cause of infant mortality in the US and Europe.
- Congenital heart disease (CHD) is the most common type of congenital malformation.
- Understanding heart development at a molecular level is crucial for improving CHD clinical management.
Purpose of the Study:
- To explore the application of mass spectrometry in understanding the molecular and cellular basis of congenital heart disease.
- To highlight recent technological advancements in mass spectrometry relevant to CHD research.
Main Methods:
- Review of recent advancements in mass spectrometry technologies.
- Discussion of the application of these technologies to study embryogenesis and genetic defects in CHD.
- Analysis of the spatial and temporal manifestation of genetic defects in early embryogenesis.
Main Results:
- Mass spectrometry-based approaches are beginning to provide insights into the molecular and cellular underpinnings of CHD.
- Recent technological progress has overcome some limitations of mass spectrometry in analyzing complex biological systems during embryogenesis.
Conclusions:
- Mass spectrometry offers promising avenues for elucidating the molecular basis of CHD.
- Continued advancements in mass spectrometry hold potential for future clinical improvements in managing CHD.
Abstract:
Congenital malformations, or structural birth defects, are now the leading cause of infant mortality in the United States and Europe (Dolk et al., 2010; Heron et al., 2009). Of the congenital malformations, congenital heart disease (CHD) is the most common (Dolk et al., 2010; Heron et al., 2009). Thus, a molecular understanding of heart development is an essential goal for improving clinical approaches to CHD. However, CHDs are commonly a result of genetic defects that manifest themselves in a spatial and temporal manner during the early stages of embryogenesis, leaving them mostly intractable to mass spectrometry-based analysis. Here, we describe the technologies and advancements in the field of mass spectrometry over the past few years that have begun to provide insights into the molecular and cellular basis of CHD and prospects for these types of approaches in the future.
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