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Assessment of Sarcoplasmic Reticulum Calcium Reserve and Intracellular Diastolic Calcium Removal in Isolated Ventricular Cardiomyocytes
11:00

Assessment of Sarcoplasmic Reticulum Calcium Reserve and Intracellular Diastolic Calcium Removal in Isolated Ventricular Cardiomyocytes

Published on: September 18, 2017

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Dystrophic Cardiomyopathy-Potential Role of Calcium in Pathogenesis, Treatment and Novel Therapies

Victoria P A Johnstone1, Helena M Viola2, Livia C Hool3,4

  • 1School of Human Sciences, The University of Western Australia, Crawley, WA 6009, Australia. vicky.johnstone@uwa.edu.au.

Genes
|March 25, 2017
PubMed

Insights

Duchenne muscular dystrophy (DMD) causes progressive muscle wasting and heart disease due to missing dystrophin. Novel therapies, including phosphorodiamidate morpholino oligomers (PMOs), show promise for treating this genetic defect.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiology
  • Neuromuscular Disorders

Background:

  • Duchenne muscular dystrophy (DMD) results from DMD gene defects, leading to absent dystrophin and progressive muscle wasting.
  • Cardiomyopathy is a major complication in DMD, significantly contributing to mortality, especially with increased ambulation.
  • Pathophysiology involves intracellular calcium, ischemia, and mitochondrial dysfunction, with limited current therapies addressing the genetic cause.

Purpose of the Study:

  • To review novel therapeutic strategies for Duchenne muscular dystrophy.
  • To highlight the efficacy of phosphorodiamidate morpholino oligomers (PMOs) in preclinical and clinical settings.

Main Methods:

  • Review of existing literature on DMD pathophysiology and emerging therapies.
  • Overview of preclinical and clinical data for phosphorodiamidate morpholino oligomers (PMOs).

Main Results:

  • Cardiomyopathy prevalence increases with age and disease progression in DMD patients.
  • Phosphorodiamidate morpholino oligomers (PMOs) have demonstrated unprecedented success in preclinical and clinical studies for DMD.

Conclusions:

  • There is an urgent need for therapies targeting the underlying genetic defect in DMD.
  • PMOs represent a promising novel therapeutic approach for Duchenne muscular dystrophy.

Keywords:
L-type calcium channelcalciumcardiomyopathycytoskeletonduchenne muscular dystrophymitochondriamolecular therapeutics

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