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Haematopoietic stem cell gene therapy with IL-1Ra rescues cognitive loss in mucopolysaccharidosis IIIA
EMBO Mol Med. 2020 Mar 6;12(3):e11185. doi: 10.15252/emmm.201911185.
Helen Parker 1, Stuart M Ellison 1, Rebecca J Holley 1, Claire O'Leary 1, Aiyin Liao 1, Jalal Asadi 1, Emily Glover 1, Arunabha Ghosh 2, Simon Jones 2, Fiona L Wilkinson 3 4, David Brough 5, Emmanuel Pinteaux 5, Hervé Boutin 5 6, Brian W Bigger 1
Abstract:
Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain. Patients develop behavioural disturbances and cognitive decline, a possible consequence of neuroinflammation and abnormal substrate accumulation. Interleukin (IL)-1β and interleukin-1 receptor antagonist (IL-1Ra) expression were significantly increased in both murine models and human MPSIII patients. We identified pathogenic mechanisms of inflammasome activation, including that disease-specific 2-O-sulphated heparan sulphate was essential for priming an IL-1β response via the Toll-like receptor 4 complex. However, mucopolysaccharidosis IIIA primary and secondary storage substrates, such as amyloid beta, were both required to activate the NLRP3 inflammasome and initiate IL-1β secretion. IL-1 blockade in mucopolysaccharidosis IIIA mice using IL-1 receptor type 1 knockout or haematopoietic stem cell gene therapy over-expressing IL-1Ra reduced gliosis and completely prevented behavioural phenotypes. In conclusion, we demonstrate that IL-1 drives neuroinflammation, behavioural abnormality and cognitive decline in mucopolysaccharidosis IIIA, highlighting haematopoietic stem cell gene therapy treatment with IL-1Ra as a potential neuronopathic lysosomal disease treatment.
PMID: 32057196
Free Full-Text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059006/
Tags: gene therapy, HSC, IL-1, mice, MPS, Mucopolysaccharidosis