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Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy
Victoria Boock1, Bhaskar Roy2, Gerald Pfeffer3
1Department of Pediatrics, University of California - Irvine School of Medicine, Orange, California.
Current Opinion in Neurology
|September 7, 2023
Summary
New therapies for valosin-containing protein (VCP) multisystem proteinopathy 1 (MSP1) are being explored. Research focuses on targeting cellular dysfunction, mitochondrial issues, and autophagy in preclinical models for this rare disease.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Cell Biology
Background:
- Missense mutations in valosin-containing protein (VCP) cause multisystem proteinopathy 1 (MSP1).
- MSP1 presents with inclusion body myopathy (IBM), Paget's disease of bone, and frontotemporal dementia.
- VCP mutations induce cellular dysfunction, enhanced ATPase activity, and reduced mitofusin levels.
Conclusions:
- Developing effective treatments for rare VCP-MSP is challenging due to small patient populations.
- Preclinical assessment of safety and efficacy is crucial for advancing potential therapies.
- Further research in preclinical models is essential to guide future clinical trials for VCP-MSP.
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