NOD2

From WikiMD's Wellness Encyclopedia

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]

References[edit | edit source]



Contributors: Prab R. Tumpati, MD