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Published on: August 2, 2018
Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle
Yiangos Psaras1, Christopher N Toepfer1
1Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Insights
Targeted genetic therapies are emerging for complex myopathies and ataxias with cardiac issues. These precision approaches aim to correct underlying genetic causes, offering new hope for debilitating conditions.
Area of Science:
- Genetics
- Cardiology
- Neurology
Background:
- Skeletal myopathies and ataxias with cardiac involvement are progressive and debilitating.
- Increased life expectancy accentuates cardiac complications in these disorders.
- Current treatments lack cures targeting the genetic basis of these conditions.
Purpose of the Study:
- To review the genetic underpinnings of myopathies and ataxias with cardiac involvement.
- To discuss the evolution of targeted biologic therapies for these genetic diseases.
- To highlight challenges in delivering multi-tissue genetic therapies.
Main Methods:
- Review of genetic causes of Duchenne muscular dystrophy, Friedreich ataxia, and Pompe disease.
- Analysis of how genetic defects disrupt cellular pathways.
- Examination of current and emerging genetic therapeutic strategies.
Main Results:
- Genetic causes disrupt homeostatic, energetic, and signaling pathways across multiple tissues.
- Novel genetic approaches offer precision targeting of primary disease mechanisms.
- Significant hurdles remain in achieving effective multi-tissue delivery of therapies.
Conclusions:
- Understanding genetic etiologies is crucial for developing targeted therapies.
- Precision medicine holds promise for treating complex myopathies and ataxias.
- Overcoming delivery challenges is key to advancing genetic therapies for these conditions.
Abstract:
Skeletal myopathies and ataxias with secondary cardiac involvement are complex, progressive and debilitating conditions. As life expectancy increases across these conditions, cardiac involvement often becomes more prominent. This highlights the need for targeted therapies that address these evolving cardiac pathologies. Musculopathies by and large lack cures that directly target the genetic basis of the diseases; however, as our understanding of the genetic causes of these conditions has evolved, it has become tractable to develop targeted therapies using biologics, to design precision approaches to target the primary genetic causes of these varied diseases. Using the examples of Duchenne muscular dystrophy, Friedreich ataxia and Pompe disease, we discuss how the genetic causes of such diseases derail diverse homeostatic, energetic and signalling pathways, which span multiple cellular systems in varied tissues across the body. We outline existing therapeutics and treatments in the context of emerging novel genetic approaches. We discuss the hurdles that the field must overcome to deliver targeted therapies across the many tissue types affected in primary myopathies.
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