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Innate Immunity in Mucopolysaccharide Diseases
Oriana Mandolfo1, Helen Parker2, Brian Bigger1
1Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3721 Stopford Building, Oxford Road, Manchester M13 9PT, UK.
International Journal of Molecular Sciences
|February 26, 2022
Summary
Mucopolysaccharidoses (MPS) involve glycosaminoglycan buildup due to enzyme deficiencies, causing severe health issues. Inflammation, particularly involving IL-1 and the NLRP3 inflammasome, drives neuroinflammation and disease progression in MPS.
Area of Science:
- Biochemistry
- Immunology
- Genetics
Background:
- Mucopolysaccharidoses (MPS) are rare pediatric lysosomal storage disorders.
- Deficiencies in lysosomal enzymes lead to glycosaminoglycan (GAG) accumulation.
- GAG buildup causes musculoskeletal abnormalities, organ failure, and cognitive decline.
Purpose of the Study:
- To review pathological features of MPS.
- To summarize inflammatory responses in MPS, focusing on the CNS and periphery.
- To propose a model for inflammation-driven MPS progression.
Main Methods:
- Literature review of MPS pathology and inflammation.
- Analysis of innate immune responses, including TLR4 and inflammasome pathways.
- Discussion of pro-inflammatory cytokines like TNF-α and IL-1.
Main Results:
- GAG accumulation triggers innate immune responses via TLR4 and secondary storage components.
- Activated immune cells release pro-inflammatory cytokines (TNF-α, IL-1), causing chronic neuroinflammation.
- IL-1 is a key effector of innate immunity in the CNS, and NLRP3 inflammasome is implicated.
Conclusions:
- Inflammation, especially IL-1 mediated, is critical in MPS neuropathology.
- The NLRP3 inflammasome is a potential therapeutic target for neuroinflammation in MPS.
- Further investigation of anti-inflammatory treatments is warranted for MPS.
Keywords:
IL-1glycosaminoglycanslysosomal storage disordersmucopolysaccharidosisneuroinflammationneuropathologyMore Related Videos
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