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Titin M-line insertion sequence 7 is required for proper cardiac function in mice.

Ariane Biquand1,2, Simone Spinozzi1,2, Paola Tonino3

  • 1Genethon, 91000 Evry, France.

Journal of Cell Science
|August 17, 2021
PubMed
Summary

The absence of the Mex5 exon (is7) in the giant sarcomeric protein titin causes dilated cardiomyopathy in mice. This finding highlights titin's role in cardiac function and potential new therapeutic targets for titinopathies.

Keywords:
Alternative splicingCardiomyopathyHeart failureMex5Titinis7

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Area of Science:

  • Cardiovascular Biology
  • Molecular Biology
  • Genetics

Background:

  • Titin is a crucial sarcomeric protein for cardiac organization and stiffness.
  • Alternative splicing of the titin gene (TTN) affects protein function, with the Mex5 exon (is7) being cardiac-specific.
  • The role of the is7 in cardiac function remains largely unexplored.

Purpose of the Study:

  • To investigate the functional consequences of lacking the Ttn Mex5 exon (is7) in a mouse model.
  • To determine if the absence of is7 contributes to cardiac dysfunction and disease.

Main Methods:

  • Comprehensive analysis of a mouse model lacking the Ttn Mex5 exon (ΔMex5 mice).
  • Methods included functional, histological, transcriptomic, microscopic, and molecular assessments.
  • Evaluation of cardiac function, fibrosis, ultrastructure, and protein expression.

Main Results:

  • Absence of the is7 in ΔMex5 mice caused dilated cardiomyopathy.
  • ΔMex5 mice exhibited impaired cardiac function, increased fibrosis, and ultrastructural abnormalities.
  • Abnormal expression of excitation-contraction coupling proteins was observed in ΔMex5 mice.

Conclusions:

  • The is7 region of titin is essential for normal cardiac function.
  • Loss of is7 leads to dilated cardiomyopathy, suggesting a link to excitation-contraction coupling.
  • These findings offer insights into titinopathies and potential therapeutic targets.