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Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function.

Yolan J Reckman1, Jan Haas2, Ingeborg van der Made1

  • 1Amsterdam UMC, University of Amsterdam, Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Human Molecular Genetics
|May 6, 2025
PubMed
Summary

Genetic variants in the miR-208a precursor molecule are linked to dilated cardiomyopathy (DCM). These specific variants impair the production and function of mature miR-208a, potentially contributing to heart failure development.

Keywords:
Dilated cardiomyopathyRare functional variantmiR-208amicroRNA

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Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a primary cause of heart failure (HF), characterized by ventricular enlargement and impaired systolic function.
  • MicroRNAs (miRNAs) play a role in HF, but the impact of genetic variations in miRNAs and their precursors on DCM susceptibility and pathogenesis remains unclear.

Purpose of the Study:

  • To investigate the contribution of genetic variants in cardiac miR-208a and miR-208b to the development of DCM.
  • To analyze the functional consequences of identified variants in the miR-208a precursor (pre-miR-208a).

Main Methods:

  • Screening of 1640 DCM cases for variants in miR-208a and miR-208b genes and their precursors.
  • In vitro overexpression experiments to assess mature miR-208a levels and pre-miRNA processing.
  • Luciferase reporter assays to evaluate the functional impact of variants on miRNA-mediated gene repression.

Main Results:

  • Four variants were identified in the miR-208a pre-miRNA, with low frequencies in the general population.
  • Two variants (+42G>T and +68G>T) alter conserved nucleotides and pre-miRNA structure, reducing mature miR-208a levels.
  • These variants also demonstrated impaired repression of target gene expression, indicating a loss of function and potential maturation deficiency.

Conclusions:

  • DCM-associated variants in pre-miR-208a impair the formation and function of mature miR-208a.
  • These findings suggest that variants +42G>T and +68G>T in pre-miR-208a may contribute to the DCM phenotype, given miR-208a's role in cardiac contractility.