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Technologies to Study Genetics and Molecular Pathways

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Congenital Heart Diseases: The Broken Heart

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Abstract

Over the last decades, the study of congenital heart disease (CHD) has benefited from various model systems and the development of molecular biological techniques enabling the analysis of single gene as well as global effects. In this chapter, we first describe different models including CHD patients and their families, animal models ranging from invertebrates to mammals, and various cell culture systems. Moreover, techniques to experimentally manipulate these models are discussed. Secondly, we introduce cardiac phenotyping technologies comprising the analysis of mouse and cell culture models, live imaging of cardiogenesis, and histological methods for fixed hearts. Finally, the most important and latest molecular biotechniques are described. These include genotyping technologies, different applications of next-generation sequencing, as well as the analysis of the transcriptome, epigenome, proteome, and metabolome. In summary, the models and technologies presented in this chapter are essential to study the function and development of the heart and to understand the molecular pathways underlying CHD.

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Acknowledgements

This work was supported by the European Community’s Seventh Framework Programme contract (“CardioNeT”) grant 289600 to S.R.S and the German Research Foundation (Heisenberg professorship and grant 574157 to S.R.S.). This work was also supported by the Berlin Institute of Health (BIH-CRG2-ConDi to S.R.S.).

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Authors and Affiliations

  1. Cardiovascular Genetics, Charité – Universitätsmedizin Berlin, Berlin, Germany

    Cornelia Dorn, Marcel Grunert & Silke Rickert-Sperling

  2. Proteomics Unit, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain

    Jésus Vázquez

  3. Genomics Unit, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain

    Ana Dopazo

  4. Bioinformatics Unit, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain

    Fátima Sánchez-Cabo

  5. Myocardial Pathophysiology Area, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain

    Alberto Gatto & Enrique Lara-Pezzi

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  1. Cornelia Dorn
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  2. Marcel Grunert
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  3. Ana Dopazo
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  4. Fátima Sánchez-Cabo
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  5. Alberto Gatto
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  6. Jésus Vázquez
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  7. Silke Rickert-Sperling
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  8. Enrique Lara-Pezzi
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Corresponding authors

Correspondence to Silke Rickert-Sperling or Enrique Lara-Pezzi .

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Editors and Affiliations

  1. Cardiovascular Genetics, Charité - Universitätsmedizin Berlin , Berlin, Germany

    Silke Rickert-Sperling

  2. Developmental Biology, Inst. of Marseilles, Aix-Marseille Univ. , Marseille, France

    Robert G. Kelly

  3. Dpt. of Pediatrics Div.of Pediatric Card, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    David J. Driscoll

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Dorn, C. et al. (2016). Technologies to Study Genetics and Molecular Pathways. In: Rickert-Sperling, S., Kelly, R., Driscoll, D. (eds) Congenital Heart Diseases: The Broken Heart. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1883-2_18

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