Technologies to Study Genetics and Molecular Pathways

Overview

Journal Adv Exp Med Biol

Specialties Biology
General Medicine

Date 2024 Jun 17

PMID 38884724

Authors

Marcel Grunert

Cornelia Dorn

Ana Dopazo

Fatima Sanchez-Cabo

Jesus Vazquez

Silke Rickert-Sperling

Enrique Lara-Pezzi

Affiliations

Soon will be listed here.

Abstract

Over the last few 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. Second, 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, and the analysis of 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.

Citing Articles

Fentanyl and Sudden Death-A Postmortem Perspective for Diagnosing and Predicting Risk.

Strenja I, Dadic-Hero E, Perkovic M, Sosa I Diagnostics (Basel). 2024; 14(17).

PMID: 39272779 PMC: 11394624. DOI: 10.3390/diagnostics14171995.

References

Benian G, Epstein H . Caenorhabditis elegans muscle: a genetic and molecular model for protein interactions in the heart. Circ Res. 2011; 109(9):1082-95. DOI: 10.1161/CIRCRESAHA.110.237685. View

Reim I, Frasch M . Genetic and genomic dissection of cardiogenesis in the Drosophila model. Pediatr Cardiol. 2009; 31(3):325-34. DOI: 10.1007/s00246-009-9612-1. View

Sperling S . Systems biology approaches to heart development and congenital heart disease. Cardiovasc Res. 2011; 91(2):269-78. DOI: 10.1093/cvr/cvr126. View

Bodmer R . The gene tinman is required for specification of the heart and visceral muscles in Drosophila. Development. 1993; 118(3):719-29. DOI: 10.1242/dev.118.3.719. View

Schoenebeck J, Yelon D . Illuminating cardiac development: Advances in imaging add new dimensions to the utility of zebrafish genetics. Semin Cell Dev Biol. 2007; 18(1):27-35. PMC: 1876688. DOI: 10.1016/j.semcdb.2006.12.010. View

Molina G, Vogt A, Bakan A, Dai W, de Oliveira P, Znosko W . Zebrafish chemical screening reveals an inhibitor of Dusp6 that expands cardiac cell lineages. Nat Chem Biol. 2009; 5(9):680-7. PMC: 2771339. DOI: 10.1038/nchembio.190. View

Major R, Poss K . Zebrafish Heart Regeneration as a Model for Cardiac Tissue Repair. Drug Discov Today Dis Models. 2008; 4(4):219-225. PMC: 2597874. DOI: 10.1016/j.ddmod.2007.09.002. View

Warkman A, Krieg P . Xenopus as a model system for vertebrate heart development. Semin Cell Dev Biol. 2006; 18(1):46-53. PMC: 1868678. DOI: 10.1016/j.semcdb.2006.11.010. View

Kain K, Miller J, Jones-Paris C, Thomason R, Lewis J, Bader D . The chick embryo as an expanding experimental model for cancer and cardiovascular research. Dev Dyn. 2013; 243(2):216-28. PMC: 4164046. DOI: 10.1002/dvdy.24093. View

10.

Gill 3rd T, Smith G, Wissler R, Kunz H . The rat as an experimental animal. Science. 1989; 245(4915):269-76. DOI: 10.1126/science.2665079. View

11.

Snider P, Conway S . Probing human cardiovascular congenital disease using transgenic mouse models. Prog Mol Biol Transl Sci. 2011; 100:83-110. PMC: 3878160. DOI: 10.1016/B978-0-12-384878-9.00003-0. View

12.

Bradley A, Anastassiadis K, Ayadi A, Battey J, Bell C, Birling M . The mammalian gene function resource: the International Knockout Mouse Consortium. Mamm Genome. 2012; 23(9-10):580-6. PMC: 3463800. DOI: 10.1007/s00335-012-9422-2. View

13.

Andersen T, Troelsen K, Larsen L . Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci. 2013; 71(8):1327-52. PMC: 3958813. DOI: 10.1007/s00018-013-1430-1. View

14.

Winston J, Erlich J, Green C, Aluko A, Kaiser K, Takematsu M . Heterogeneity of genetic modifiers ensures normal cardiac development. Circulation. 2010; 121(11):1313-21. PMC: 2953850. DOI: 10.1161/CIRCULATIONAHA.109.887687. View

15.

Siddiqui A, Khattra J, Delaney A, Zhao Y, Astell C, Asano J . A mouse atlas of gene expression: large-scale digital gene-expression profiles from precisely defined developing C57BL/6J mouse tissues and cells. Proc Natl Acad Sci U S A. 2005; 102(51):18485-90. PMC: 1311911. DOI: 10.1073/pnas.0509455102. View

16.

Claycomb W, Lanson Jr N, Stallworth B, Egeland D, Delcarpio J, Bahinski A . HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte. Proc Natl Acad Sci U S A. 1998; 95(6):2979-84. PMC: 19680. DOI: 10.1073/pnas.95.6.2979. View

17.

Gonnerman E, Kelkhoff D, McGregor L, Harley B . The promotion of HL-1 cardiomyocyte beating using anisotropic collagen-GAG scaffolds. Biomaterials. 2012; 33(34):8812-21. DOI: 10.1016/j.biomaterials.2012.08.051. View

18.

Kimes B, Brandt B . Properties of a clonal muscle cell line from rat heart. Exp Cell Res. 1976; 98(2):367-81. DOI: 10.1016/0014-4827(76)90447-x. View

19.

Yaffe D, Saxel O . Serial passaging and differentiation of myogenic cells isolated from dystrophic mouse muscle. Nature. 1977; 270(5639):725-7. DOI: 10.1038/270725a0. View

20.

McBurney M, Edwards M, Anderson P . Control of muscle and neuronal differentiation in a cultured embryonal carcinoma cell line. Nature. 1982; 299(5879):165-7. DOI: 10.1038/299165a0. View