Mucopolysaccharidosis VI: Therapeutic strategies and perspectives
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View abstract on PubMed
Summary
This summary is machine-generated.Mucopolysaccharidosis VI (MPS VI) is a genetic disorder treated by enzyme replacement therapy, but new gene therapies and stem cell treatments show promise for bone issues and overall health.
Area Of Science
- Biochemistry
- Genetics
- Medical Research
Background
- Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder.
- Caused by ARSB gene mutations, leading to arylsulfatase deficiency and dermatan and chondroitin sulfate accumulation.
- This accumulation causes multisystemic symptoms affecting cartilage, bone, heart valves, and other organs.
Purpose Of The Study
- To review recent progress and emerging strategies for treating MPS VI.
- To highlight advancements beyond current enzyme replacement therapy (ERT).
Main Methods
- Review of current literature on MPS VI treatments.
- Analysis of emerging therapeutic approaches including gene therapy (GT) and hematopoietic stem cell transplantation (HSCT).
- Exploration of substrate reduction therapy, immunomodulation, and stop codon read-through therapies.
Main Results
- Enzyme replacement therapy (ERT) improves survival and quality of life but has limited impact on bone issues.
- Gene therapy (GT) using AAV and CRISPR/Cas9 shows promise as an alternative.
- Combination of HSCT and GT offers a novel therapeutic avenue.
Conclusions
- Emerging therapies like GT and HSCT offer promising alternatives for MPS VI.
- Future research should focus on cellular targets like mitochondrial dysfunction and cartilage-specific treatments.
- Pharmacological chaperones and other novel strategies are under investigation.
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