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The Role of scaRNAs in Adjusting Alternative mRNA Splicing in Heart Development

Chloe Nagasawa1, Allison Ogren2, Nataliya Kibiryeva3

  • 1College of Biosciences, Kansas City University, Kansas City, MO 64106, USA. cnagasawa94@kcumb.edu.

Journal of Cardiovascular Development and Disease
|May 9, 2018
PubMed

Insights

Small cajal body-associated RNAs (scaRNAs) are significantly reduced in Tetralogy of Fallot (TOF) hearts. This reduction impacts mRNA splicing, leading to congenital heart defects in infants and zebrafish models.

Area of Science:

  • Developmental Biology
  • Molecular Biology
  • Genetics

Background:

  • Congenital heart disease (CHD) is a major cause of infant mortality, with unknown etiology in ~70% of cases.
  • Tetralogy of Fallot (TOF), a conotruncal defect, necessitates early surgical intervention.
  • Noncoding RNAs play crucial roles in cellular function and development.

Purpose of the Study:

  • To investigate the role of noncoding RNAs, specifically small cajal body-associated RNAs (scaRNAs), in the pathogenesis of Tetralogy of Fallot (TOF).
  • To explore the link between scaRNA dysregulation, mRNA splicing, and heart development defects.

Main Methods:

  • Analysis of noncoding transcriptome in myocardial tissue from infants with TOF.
  • Quantification of specific small cajal body-associated RNAs (scaRNAs) in right ventricle tissue.
  • Utilizing a zebrafish model to assess the impact of altered scaRNA expression on heart development and mRNA processing.

Main Results:

  • Significant variations in noncoding RNA expression were observed in TOF hearts.
  • A notable reduction in 12 specific scaRNAs was identified in the right ventricle of TOF patients.
  • Dysregulated mRNA splicing critical for heart development was documented in TOF infant heart tissue.
  • Altering scaRNA expression in zebrafish resulted in faulty mRNA processing and embryonic heart defects.

Conclusions:

  • Small cajal body-associated RNAs (scaRNAs) are significantly reduced in congenital heart defects like TOF.
  • scaRNA deficiency disrupts mRNA splicing fidelity, contributing to faulty heart development.
  • scaRNAs represent a potential regulatory mechanism in heart development and a target for future research.

Keywords:
alternative mRNA splicingcongenital heart defectsscaRNAssmall cajal body-associated RNAstetralogy of Fallot

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