Zebrafish dspb-/- mutant as a model for non-dilated left ventricular cardiomyopathy: exploring cardiac dysfunction and exercise modulation.
S, M., J, W.G., Á, J.S., D, S.E., JJ, S.M., ME, N.R., C, G.O., Á, B.G., JR, G.B., & ML, C.F. (2026). Zebrafish dspb-/- mutant as a model for non-dilated left ventricular cardiomyopathy: exploring cardiac dysfunction and exercise modulation.. Molecular biomedicine. https://doi.org/10.1186/s43556-026-00476-7
S M, J WG, Á JS, D SE, JJ SM, ME NR, et al. Zebrafish dspb-/- mutant as a model for non-dilated left ventricular cardiomyopathy: exploring cardiac dysfunction and exercise modulation.. Molecular biomedicine. 2026; doi: 10.1186/s43556-026-00476-7
S M, J WG, Á JS, et al. Zebrafish dspb-/- mutant as a model for non-dilated left ventricular cardiomyopathy: exploring cardiac dysfunction and exercise modulation.[J]. Molecular biomedicine. 2026. DOI: 10.1186/s43556-026-00476-7.
@article{s2026,
author = {Munteanu S and Wagih Gómez J and Júdez Serrano Á and Saura Espín D and Santos Mateo JJ and Nicolás Rocamora ME and Gil Ortuño C and Bernabé García Á and Gimeno-Blanes JR and Cayuela Fuentes ML},
title = {Zebrafish dspb-/- mutant as a model for non-dilated left ventricular cardiomyopathy: exploring cardiac dysfunction and exercise modulation.},
journal = {Molecular biomedicine},
year = {2026},
doi = {10.1186/s43556-026-00476-7},
note = {PMID: 42295563},
}
TY - JOUR AU - Munteanu S AU - Wagih Gómez J AU - Júdez Serrano Á AU - Saura Espín D AU - Santos Mateo JJ AU - Nicolás Rocamora ME AU - Gil Ortuño C AU - Bernabé García Á AU - Gimeno-Blanes JR AU - Cayuela Fuentes ML TI - Zebrafish dspb-/- mutant as a model for non-dilated left ventricular cardiomyopathy: exploring cardiac dysfunction and exercise modulation. T2 - Molecular biomedicine PY - 2026 DO - 10.1186/s43556-026-00476-7 AN - PMID:42295563 ER -
Truncating variants in the DSP gene are associated with non-dilated left ventricular cardiomyopathy (ND-LVC), characterized by impaired ventricular function without dilation. The influence of physical activity in disease onset, severity, and progression in DSP variant carriers remains unclear. This study aimed to generate a zebrafish model carrying a human DSP truncating variant to characterize homozygous dspb-/- mutants in terms of cardiac function, structure, and gene expression. The impact of moderate and endurance exercise was additionally evaluated. Clinical data from human carriers were also analysed to assess the relationship between physical activity, age at diagnosis, disease severity and arrhythmic events. A CRISPR/Cas9-generated dspb-/- zebrafish model (p.T449fs*) was used to characterize structural, functional, and molecular phenotypes. Moderate exercise training protocols were applied to assess their effect on cardiac function, endurance capacity, and survival. Physically active human carriers were diagnosed at a younger age but did not show increased disease severity or events rates. Zebrafish mutants exhibited baseline systolic dysfunction, sarcomeric disorganization, and signaling pathway dysregulation. Importantly, moderate exercise partially restored cardiac function and improved endurance without increasing mortality. These findings indicate that exercise may serve as a phenotypic modifier in DSP-related ND-LVC, enhancing functional outcomes without accelerating disease progression. The dspb-/- zebrafish model provides a robust translational platform to investigate the interactions between lifestyle factors and the pathogenesis of inherited desmosomal cardiomyopathies.