Wewnątrzkomórkowe receptory NOD-podobne, skutki mutacji w obrębie ich genów


Intracellular NOD-like receptors, implications of mutations in their genes
M. Osiak, N. Pająk, H. Antosz

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1. Wprowadzenie. 2. Rodzina receptorów NOD-podobnych. 2.1. Podrodzina NLRP. 2.2. Podrodzina NLRC. 2.3 Podrodzina NLRA. 2.4. Podrodzina NLRB. 2.5 Podrodzina NLRX. 3.Udział NLR w tworzeniu platform molekularnych-inflamasomów. 4. Choroby wywołane mutacjami w genach NLR. 4.1. Choroba Leśniowskiego-Crohna. 4.2. Choroba Blau’a. 4.3. Zespół okresowej gorączki. 4.4. Sarkoidoza. 4.5. Choroby alergiczne. 4.6. Zespół nagich limfocytów. 4.7. Niepowodzenia rozrodu. 4.8. Bielactwo. 5. Podsumowanie

Abstract: The response of the innate immune system depends inter alia on the activity of a family of NOD-like receptors (NLR). The NLR includes subfamilies of NLRP, NLRA, NLRB, NLRC, and NLRX. Active members of the NLRC subfamily ie NOD1 and NOD2 through recognizing ligands present in the cytosol activate the signaling pathway of the nuclear factor NF-κB. Other members of the NLR form large intracellular complexes called inflammasome and after binding the ligand they activate caspase 1, which splits pro-IL-1β, making it possible to release the active IL-1β outside the cell. It has been shown that mutations in certain NLR genes are associated with the development of numerous diseases including Crohn’s disease, Blau syndrome, cryopyrin-associated periodic fever syndrome, sarcoidosis, hydatidiform mole, testicular seminoma, allergic diseases, bare lymphocytic syndrome and vitiligo.

1. Introduction. 2. NOD-like receptors family. 2.2. NLRP subfamily. 2.3. NLRC subfamily. 2.4. NLRA subfamily. 2.5. NLRB subfamily. 2.5. NLRX subfamily. 3. NLR participation in the creation of molecular platforms – inflammasome. 4. Diseases caused by mutations in NLR genes. 4.1. Leśniowski-Crohn disease. 4.2. Blau syndrome. 4.3. Cryopyrin-associated periodic fever syndrome. 4.4. Sarcoidosis. 4.5. Allergic diseases. 4.6. Bare lymphocytic syndrome. 4.7. Reproductive failure. 4.8. Vitiligo. 5. Summary