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Heart Dissection in Larval, Juvenile and Adult Zebrafish, Danio rerio
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RRAGD variants cause cardiac dysfunction in a zebrafish model.

Anastasia Adella1, Faris Tengku1, Francisco J Arjona1

  • 1Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.

American Journal of Physiology. Heart and Circulatory Physiology
|September 27, 2024
PubMed
Summary

Genetic variants in the Ras-related GTP-binding protein D (RRAGD) gene cause cardiac dysfunction. Zebrafish models showed RRAGD mutations impair heart function, but rapamycin therapy reversed these effects, suggesting a potential treatment for this rare cardiomyopathy.

Keywords:
RRAGDcardiac dysfunctionmTORC1rapamycinzebrafish

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Area of Science:

  • Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Ras-related GTP-binding protein D (RRAGD) variants are linked to kidney tubulopathy and dilated cardiomyopathy.
  • The organismal-level consequences of RRAGD variants remain largely unknown.
  • Understanding RRAGD's role in cardiac function is crucial for disease mechanism elucidation.

Purpose of the Study:

  • To investigate the impact of RRAGD variants on cardiac function using a zebrafish embryo model.
  • To assess the therapeutic potential of rapamycin, an mTOR inhibitor, in RRAGD-associated cardiac dysfunction.
  • To establish a model for studying rare cardiomyopathies linked to RRAGD.

Main Methods:

  • Zebrafish embryos were injected with RRAGD p.S76L and p.P119R cRNA.
  • Cardiac function was assessed by measuring ventricular fractional shortening and ejection fraction.
  • Phenotypic changes, survival rates, and response to rapamycin treatment were analyzed.

Main Results:

  • Overexpression of RRAGD mutants led to decreased cardiac function and pericardial swelling.
  • RRAGD S76L mutants significantly reduced survival and heartbeat.
  • Rapamycin treatment reversed the observed cardiac defects in zebrafish embryos.
  • No significant effects on electrolyte homeostasis were detected.

Conclusions:

  • RRAGD plays a critical role in maintaining normal cardiac function.
  • Zebrafish embryos serve as a relevant model for RRAGD-dependent cardiomyopathy.
  • Rapamycin shows therapeutic potential for RRAGD-associated cardiac dysfunction, warranting further clinical investigation.