October 9, 2025Circulation Research

Abstract Wed052: Role of Nonsense-mediated mRNA Decay in Hypertrophic Cardiomyopathy

Q: What is the clinical evidence from this study?

Study design: Other. Population: Hypertrophic cardiomyopathy. Intervention: Cardiomyocyte-specific knockout of Upf2. Primary outcome: Severe hypertrophic cardiomyopathy and death.

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Key result

Cardiac Upf2 knockout induces severe hypertrophic cardiomyopathy and death within 4 weeks in mice.

Population

Mice with adult-onset and cardiomyocyte-specific knockout of Upf2, human patients with left ventricular…

Design

Preclinical

Follow-up

4 weeks

Authors

XRXiangbo RuanNational Institutes of Health

Discussion

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Implication

Suppression of nonsense-mediated mRNA decay leads to uncontrolled upregulation of cardiomyocyte NMD targets, promoting the progression of hypertrophic cardiomyopathy.

Key Points

Suppression of nonsense-mediated mRNA decay leads to severe hypertrophic cardiomyopathy, causing early mortality in mice.
Gene expression analysis identified significant upregulation of inflammation and fibrosis markers following Upf2 knockout.
RNA-seq results highlighted specific NMD targets associated with hypertrophic cardiomyopathy, including Map4k4 and Icam-1.
Findings indicate NMD plays a critical role in cardiac health, suggesting therapeutic avenues for hypertrophic cardiomyopathy.

Structured PICO

Population

Mice with adult-onset and cardiomyocyte-specific knockout of Upf2, human patients with left ventricular hypertrophy (from published RNA-seq data), and a mouse model of cardiomyocyte hypertrophy

Intervention

Cardiomyocyte-specific knockout of Upf2 (core component of NMD machinery)

Outcome

Development of hypertrophic cardiomyopathy and survival

Suppression of nonsense-mediated mRNA decay leads to uncontrolled upregulation of cardiomyocyte NMD targets, promoting the progression of hypertrophic cardiomyopathy.

Cite This Study

Xiangbo Ruan (2025) studied Hypertrophic cardiomyopathy. Cardiomyocyte-specific knockout of Upf2 was evaluated on Severe hypertrophic cardiomyopathy and death. Cardiomyocyte-specific knockout of Upf2 in mice led to severe hypertrophic cardiomyopathy causing death within 4 weeks, supporting that NMD suppression promotes hypertrophic cardiomyopathy progression.

synapsesocial.com/papers/68e77f09d1c187e1c108faeb https://doi.org/10.1161/res.137.suppl_1.wed052

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Implication

Suppression of nonsense-mediated mRNA decay leads to uncontrolled upregulation of cardiomyocyte NMD targets, promoting the progression of hypertrophic cardiomyopathy.

Abstract Wed052: Role of Nonsense-mediated mRNA Decay in Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Abstract Wed052: Role of Nonsense-mediated mRNA Decay in Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Also Consider

Also Consider