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Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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Related Experiment Video

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Visualization of Cell Cycle Variations and Determination of Nucleation in Postnatal Cardiomyocytes

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Reducing Granules Without Splicing Restoration Alleviates RBM20 Cardiomyopathy.

Mei Methawasin^1,2, Yanghai Zhang³, Zachery R Gregorich³

¹Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson (M.M., J.M., Z.H., J.E.S., H.G.).

Circulation Research

|April 17, 2025

Summary

Reducing RNA binding motif protein 20 (RBM20) expression with antisense oligonucleotides (ASOs) decreased pathogenic RNP granules and alleviated RBM20 cardiomyopathy in mice. This approach offers a potential therapy for RBM20-related heart conditions.

Keywords:

alternative splicing arrhythmias, cardiac cardiomyopathy, dilated muscle, striated oligonucleotides, antisense

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Area of Science:

Cardiovascular Biology
Molecular Medicine
Genetic Cardiology

Background:

RBM20 cardiomyopathy is a severe DCM linked to nuclear import defects of RBM20.
Defective RBM20 import causes pathogenic cytoplasmic ribonucleoprotein (RNP) granules.
RBM20 variants in the nuclear localization signal are implicated in disease pathogenesis.

Purpose of the Study:

To investigate if reducing RNP granules by inhibiting RBM20 expression can ameliorate DCM in RBM20 S639G knock-in mice.
To assess the therapeutic potential of antisense oligonucleotides (ASOs) targeting RBM20 expression.

Main Methods:

Administration of RBM20-specific ASOs to RBM20 S639G mice at different disease stages (pre-symptomatic and established).
Assessment of cardiac function via echocardiography, RNP granule quantification, alternative splicing analysis, and electrocardiography.
Analysis of titin isoform expression and cardiomyocyte calcium handling.

Main Results:

ASO treatment significantly reduced cytoplasmic RNP granules in cardiomyocytes.
Early ASO administration attenuated DCM severity; late administration reversed established cardiac dysfunction and remodeling.
Beneficial effects included improved ejection fraction, reduced chamber dilation, mitigated hypertrophy, and normalized ECG parameters, independent of splicing restoration.

Conclusions:

Cytoplasmic RNP granules are key drivers of RBM20 cardiomyopathy.
Reducing RNP granules via ASO therapy is a promising therapeutic strategy for RBM20 cardiomyopathy.
This approach may benefit patients with genetic variants affecting RBM20 nuclear import.