Peer-reviewed veterinary case report
Gene therapy boosts brain enzyme in dogs with MPS VII disease
By Gurda, Brittney L et al.·Published in Molecular therapy : the journal of the American Society of Gene Therapy·2016·Department of Clinical Studies, United States·View original on PubMed →
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Original publication title: Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.
- Species:
- dog
Plain-English summary
A group of dogs with a genetic condition called mucopolysaccharidosis VII (MPS VII), which can cause serious neurological issues, received gene therapy to help improve their symptoms. The dogs were treated either through an intravenous (i.v.) injection or a direct injection into the spinal area (intrathecal or i.t.). The results showed that the intrathecal treatment was much more effective, significantly increasing the levels of a crucial enzyme in the brain and reducing harmful substances that build up in the body. The dogs that received the i.t. injection showed much better outcomes compared to those treated with just the i.v. method.
People also search for: dog mucopolysaccharidosis VII treatment · gene therapy for dogs · dog neurological disease symptoms
Abstract
Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disease arising from mutations in β-d-glucuronidase (GUSB), which results in glycosaminoglycan (GAG) accumulation and a variety of clinical manifestations including neurological disease. Herein, MPS VII dogs were injected intravenously (i.v.) and/or intrathecally (i.t.) via the cisterna magna with AAV9 or AAVrh10 vectors carrying the canine GUSB cDNA. Although i.v. injection alone at 3 days of age resulted in normal cerebrospinal fluid (CSF) GUSB activity, brain tissue homogenates had only ~1 to 6% normal GUSB activity and continued to have elevated GAG storage. In contrast, i.t. injection at 3 weeks of age resulted in CSF GUSB activity 44-fold normal while brain tissue homogenates had >100% normal GUSB activity and reduced GAGs compared with untreated dogs. Markers for secondary storage and inflammation were eliminated in i.t.-treated dogs and reduced in i.v.-treated dogs compared with untreated dogs. Given that i.t.-treated dogs expressed higher levels of GUSB in the CNS tissues compared to those treated i.v., we conclude that i.t. injection of AAV9 or AAVrh10 vectors is more effective than i.v. injection alone in the large animal model of MPS VII.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/26447927/