Familial Mediterranean fever gene (MEFV) mutations in patients with rheumatic heart disease

• Published in: Heart (British Cardiac Society) Vol. 87; no. 6; pp. 568 - 569
• Main Authors: Tutar, E, Akar, N, Atalay, S, Yilmaz, E, Akar, E, Yalçinkaya, F
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Cardiovascular Society 01.06.2002; BMJ; BMJ Publishing Group LTD; Copyright 2002 by Heart
• Subjects: Adolescent; Antigens; Biological and medical sciences; Cardiology. Vascular system; Cardiovascular disease; Child; Cytoskeletal Proteins; Endocardial and cardiac valvular diseases; familial Mediterranean fever; Familial Mediterranean Fever - complications; Familial Mediterranean Fever - genetics; familial Mediterranean fever gene; Family medical history; Female; Fever; FMF; Gene Frequency; Genes; Heart; Humans; Hypotheses; Infections; Inflammation; Inflammatory diseases; Male; Medical sciences; MEFV; Mutation; Mutation - genetics; Pathogenesis; Pathogens; Phenotype; Proteins - genetics; Pyrin; RHD; rheumatic fever; rheumatic heart disease; Rheumatic Heart Disease - complications; Rheumatic Heart Disease - genetics; Scientific Letters; Studies; Infection; Human; Gene; Cardiac valvular disease; Streptococcal infection; Familial recurrent polyseritis; Bacteriosis; Clinical form; Cardiovascular disease; Mutation; Genetic determinism; Rheumatic fever
• ISSN: 1355-6037; 1468-201X
• DOI: 10.1136/heart.87.6.568

The gene responsible for FMF (MEFV) has been cloned recently on the short arm of chromosome 16 and more than 20 mutations have been identified. 1 The gene product pyrin (marenostrin) is thought to control the inflammatory response by regulating the expression of some target genes that are involved in the suppression of inflammation. [...]it was suggested that mutations in the MEFV gene prevent the normal pyrin (marenostrin) mediated negative feedback mechanism and trigger inflammation. Inflammatory disorders that might be related to streptococci, such as polyarteritis nodosa and Henoch-Schönlein purpura, are encountered in FMF more commonly than in the general population. 2 In addition acute poststreptococcal glomerulonephritis has been characterised as a type of renal involvement, 5 and RHD has been reported 4, 5 to be more frequent in patients with FMF than in the normal population. [...]increased antistreptolysin O titres have been reported in FMF patients. 4 This is the proof of greater antibody response against streptococci in patients with FMF.