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Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.

Manuela Loi1, Stefano Bastianini1, Giulia Candini1

  • 1Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.

International Journal of Molecular Sciences
|March 29, 2023
PubMed
Summary

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder impacts heart function in female mice. This study reveals cardiac alterations, including arrhythmias and fibrosis, in heterozygous Cdkl5+/- mice, suggesting new therapeutic avenues.

Keywords:
CDKL5 deficiency disorderheart agingmitochondrial dysfunctionmouse modelprolonged QTc interval

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Area of Science:

  • Cardiology
  • Genetics
  • Neurodevelopmental Disorders

Background:

  • CDKL5 deficiency disorder (CDD) is a severe X-linked neurodevelopmental condition.
  • Current research primarily focuses on CDKL5's role in the brain.
  • Limited knowledge exists regarding CDKL5 function in other organs, hindering comprehensive therapeutic strategies.

Purpose of the Study:

  • To investigate cardiac structure and function in heterozygous Cdkl5+/- female mice.
  • To explore the impact of CDKL5 deficiency on heart electrophysiology and cellular mechanisms.
  • To identify novel preclinical phenotypes for CDD-related cardiac complications.

Main Methods:

  • Assessment of cardiac function and electrophysiology in heterozygous Cdkl5+/- mice.
  • Analysis of parasympathetic activity, voltage-gated channel expression (Scn5a, Hcn4), and cardiac fibrosis.
  • Evaluation of gap junction organization, connexin-43 expression, mitochondrial function, and reactive oxygen species (ROS) production.

Main Results:

  • Heterozygous Cdkl5+/- mice exhibited prolonged QT interval (QTc) and increased heart rate.
  • A decrease in cardiac parasympathetic activity and altered expression of Scn5a and Hcn4 channels were observed.
  • Increased cardiac fibrosis, disrupted gap junctions, altered connexin-43, mitochondrial dysfunction, and elevated ROS production were documented.

Conclusions:

  • CDKL5 plays a crucial role in maintaining normal cardiac structure and function.
  • Heterozygous Cdkl5+/- mice present a novel preclinical model for CDD-related cardiac abnormalities.
  • These findings open avenues for investigating CDKL5's broader physiological roles and developing targeted cardiac therapies.