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Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice
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Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice

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Therapeutic base editing alleviates restrictive cardiomyopathy

Chong Chang1, Xiulin Zhang2, Xiaoqi Fan3

  • 1College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China; State Key Laboratory of Gene Expression, School of Medicine, Westlake University, Hangzhou, Zhejiang 310030, China.

Cell Reports. Medicine
|February 28, 2026
PubMed

Insights

Adenine base editing (ABE) successfully corrected a mutation causing restrictive cardiomyopathy (RCM) in mice. This gene therapy approach improved cardiac function, offering hope for treating genetic heart conditions.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Molecular Therapy

Background:

  • Restrictive cardiomyopathy (RCM) is a severe heart condition impairing diastolic function, often caused by sarcomeric protein mutations.
  • Mutations in the TNNI3 gene, such as p.R192H, are significant genetic drivers of RCM, especially in pediatric cases with poor outcomes.

Purpose of the Study:

  • To investigate the efficacy of adenine base editing (ABE) in correcting the TNNI3 R193H mutation and alleviating RCM in a mouse model.
  • To establish base editing as a potential therapeutic strategy for genetic cardiomyopathies.

Main Methods:

  • Development of a murine model with the Tnni3R193H mutation mimicking human RCM.
  • Adeno-associated virus (AAV)-mediated delivery of ABE for targeted gene correction in adult RCM mice.

Main Results:

  • ABE achieved efficient and precise correction of the Tnni3R193H mutation in the RCM mouse model.
  • Significant improvement in cardiac function was observed following ABE treatment.

Conclusions:

  • Adenine base editing demonstrates therapeutic potential for RCM by correcting causative mutations.
  • This study supports the broader application of base editing for treating genetic cardiomyopathies.

Keywords:
AAVTNNI3Tnni3(R193H) miceadenine base editingrestrictive cardiomyopathy

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