Peer-reviewed veterinary case report
Gene therapy boosts enzyme in newborn cats with MPS VI disease
By Ponder, Katherine P et al.·Published in Molecular therapy : the journal of the American Society of Gene Therapy·2012·Department of Internal Medicine, United States·View original on PubMed →
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Original publication title: Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats.
- Species:
- cat
Plain-English summary
A group of cats with mucopolysaccharidosis VI (MPS VI), a genetic disorder affecting their ability to break down certain sugars, received a special gene therapy treatment. The therapy involved injecting a retroviral vector that helped produce a missing enzyme in their liver. As a result, these treated cats showed significant improvements, including higher body weights, longer bones, and less damage to their joints and heart compared to untreated cats. However, some bone issues still persisted despite the treatment. Overall, this gene therapy shows promise for helping cats with this condition, but further work is needed for complete recovery.
People also search for: cat mucopolysaccharidosis VI treatment · gene therapy for cats · cat joint problems · cat heart disease treatment · cat genetic disorders
Abstract
Mucopolysaccharidosis (MPS) VI is due to a deficiency in the activity of N-acetylgalactosamine 4-sulfatase (4S), also known as arylsulfatase B. Previously, retroviral vector (RV)-mediated neonatal gene therapy reduced the clinical manifestations of MPS I and MPS VII in mice and dogs. However, sulfatases require post-translational modification by sulfatase-modifying factors. MPS VI cats were injected intravenously (i.v.) with a gamma RV-expressing feline 4S, resulting in 5 ± 3 copies of RV per 100 cells in liver. Liver and serum 4S activity were 1,450 ± 1,720 U/mg (26-fold normal) and 107 ± 60 U/ml (13-fold normal), respectively, and were directly proportional to the liver 4S protein levels for individual cats. This study suggests that sulfatase-modifying factor (SUMF) activity in liver was sufficient to result in active enzyme despite overexpression of 4S. RV-treated MPS VI cats achieved higher body weights and longer appendicular skeleton lengths, had reduced articular cartilage erosion, and reduced aortic valve thickening and aortic dilatation compared with untreated MPS VI cats, although cervical vertebral bone lengths were not improved. This demonstrates that therapeutic expression of a functional sulfatase protein can be achieved with neonatal gene therapy using a gamma RV, but some aspects of bone disease remain difficult to treat.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22395531/