An Interspecies Heart-to-Heart: Using Xenopus to Uncover the Genetic Basis of Congenital Heart Disease

Abstract

Purpose of Review

Given the enormous impact congenital heart disease has on child health, it is imperative that we improve our understanding of the disease mechanisms that underlie patient phenotypes and clinical outcomes. This review will outline the merits of using the frog model, Xenopus, as a tool to study human cardiac development and left-right patterning mechanisms associated with congenital heart disease.

Recent Findings

Patient-driven gene discovery continues to provide new insight into the mechanisms of congenital heart disease, and by extension, patient phenotypes and outcomes. By identifying gene variants in CHD patients, studies in Xenopus have elucidated the molecular mechanisms of how identified candidate genes affect cardiac development and left-right patterning, a process that has major impacts on cardiac morphogenesis. Xenopus is also a useful screening tool that helps define the biological relevance of identified patient mutations. Ongoing investigations continue to illuminate disease mechanisms using this organism.

Summary

Analyses in model organisms can help to elucidate the disease mechanisms underlying CHD patient phenotypes. Using Xenopus to disentangle the genotype-phenotype relationships of well-known and novel disease genes could enhance the ability of physicians to efficaciously treat patients and predict clinical outcomes, ultimately improving quality of life and survival rates of patients born with congenital heart disease.

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