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Gene therapy for cardiovascular manifestations of lysosomal storage diseases

Meg M Sleeper1, Mark E Haskins2, Katherine P Ponder3

  • 1Department of Clinical Studies, University of Pennsylvania Veterinary School, Philadelphia.

Heart and Metabolism : Management of the Coronary Patient
|March 4, 2016
PubMed

Insights

Lysosomal storage diseases cause cardiac issues due to enzyme deficiencies. Enzyme replacement and gene therapy show promise for treating these rare genetic conditions affecting the heart.

Area of Science:

  • Biochemistry
  • Genetics
  • Cardiology

Background:

  • Lysosomal storage diseases (LSDs) are genetic disorders characterized by deficient lysosomal enzyme activity.
  • Cardiac manifestations are common in LSDs, including aortic/valvular disease (Mucopolysaccharidosis), cardiac muscle weakness (Pompe disease), and left ventricular hypertrophy (Fabry disease).

Purpose of the Study:

  • To review current therapeutic strategies for cardiac manifestations in LSDs.
  • To highlight the potential of enzyme replacement therapy (ERT) and gene therapy.

Main Methods:

  • Review of existing literature on lysosomal storage diseases and cardiac involvement.
  • Analysis of the mechanisms and efficacy of ERT and gene therapy.

Main Results:

  • ERT using mannose 6-phosphate-modified enzymes is approved for certain LSDs, enabling cellular uptake.
  • Gene therapy can lead to systemic secretion of modified enzymes, facilitating cellular uptake and demonstrating efficacy in animal models.

Conclusions:

  • Both ERT and gene therapy offer promising therapeutic avenues for addressing cardiac complications in LSDs.
  • Gene therapy, in particular, shows significant potential for widespread enzyme distribution and treatment efficacy in preclinical studies.

Keywords:
Animal modelsgene therapylysosomal storage diseasemucopolysaccharidosisvalve

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