NOD2
NOD2 is a protein that in humans is encoded by the NOD2 gene. It is a member of the NOD-like receptor (NLR) family, which plays a crucial role in the immune system by recognizing molecules derived from pathogens and initiating an immune response.
Function[edit | edit source]
NOD2 is an intracellular pattern recognition receptor that can detect bacterial peptidoglycan, specifically muramyl dipeptide (MDP). Upon recognition of MDP, NOD2 activates the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) pathway, leading to the production of pro-inflammatory cytokines and chemokines. This process is essential for the body's defense against bacterial infections.
Clinical significance[edit | edit source]
Mutations in the NOD2 gene are associated with several diseases, including Crohn's disease, Blau syndrome, and early-onset sarcoidosis. These diseases are characterized by chronic inflammation, suggesting a role for NOD2 in the regulation of inflammatory responses.
Crohn's disease[edit | edit source]
In Crohn's disease, certain mutations in the NOD2 gene increase the risk of developing the disease. These mutations result in a NOD2 protein that is less able to recognize MDP, leading to a reduced immune response to bacteria in the gut. This may contribute to the chronic inflammation seen in Crohn's disease.
Blau syndrome[edit | edit source]
Blau syndrome is a rare genetic disorder characterized by granulomatous arthritis, uveitis, and dermatitis. It is caused by mutations in the NOD2 gene that result in a constitutively active NOD2 protein, leading to continuous activation of the NF-κB pathway and chronic inflammation.
Sarcoidosis[edit | edit source]
Early-onset sarcoidosis is a rare form of sarcoidosis that begins in childhood. Like Blau syndrome, it is associated with mutations in the NOD2 gene that result in a constitutively active NOD2 protein.
See also[edit | edit source]
- Pattern recognition receptor
- Innate immune system
- Inflammatory bowel disease
- Autoinflammatory disease
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD