In familial Mediterranean fever, the gene encoding the following protein undergoes mutation:
The familial Mediterranean fever gene encodes a 781-amino acid, 95 kDa protein, denoted pyrin (or marenostrin) that is expressed in granulocytes, eosinophils, monocytes, dendritic cells, and synol and peritoneal fibroblasts. Must know: ANP (Atrial Natriuretic peptide) is a 28-amino-acid peptide synthesized and released from atrial cardiomyocytes in response to stretch. ANP reduces vascular resistance while enhancing sodium excretion through extra renal and intrarenal mechanisms. Perforin is a cytolytic protein found in the granules of Cytotoxic T lymphocytes (CTLs) and NK cells. The immunoglobulin light chain is the small polypeptide subunit of an antibody (immunoglobulin). A typical antibody is composed of two immunoglobulin (Ig) heavy chains and two Ig light chains. Ref: Longo D.L., Fauci A.S., Kasper D.L., Hauser S.L., Jameson J.L., Loscalzo J. (2012). Chapter 330. Familial Mediterranean Fever and Other Hereditary Recurrent Fevers. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e.;Hall J.E., Granger J.P., Jones D.W., Hall M.E. (2011). Chapter 69. Pathophysiology of Hypeension. In V. Fuster, R.A. Walsh, R.A. Harrington (Eds), Hurst's The Hea, 13e.
Pyrin
Perforin
Atrial natriuretic factor
Immunoglobulin light chain