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Fabry and fmf diseases: more that eyes can see
Author(s) -
Vasto Sonya,
Castiglia Laura,
Nuzzo Domenico,
Rizzo Claudia,
Duro Giovanni,
Caruso Calogero
Publication year - 2010
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.24.1_supplement.1030.12
Subject(s) - familial mediterranean fever , pyrin domain , mefv , medicine , disease , immunology , fabry disease , population , inflammation , mutation , genetics , inflammasome , biology , gene mutation , gene , environmental health
Fabry disease is an X‐linked disorder resulting from a deficiency of the lysosomal enzyme alpha‐galactosidase leading to the accumulation of glycolipids in the cells. It has been demonstrated that polymorphisms of alfa‐galactosidase might influence the onset and development of inflammatory cardiovascular age related disease. Familiar Mediterranean fever (FMF) is a autosomal recessive inflammatory based disease, characterized by recurrent fever, peritonitis, arthritis, pleuritis, and cardiac problems. MEFV encodes the pyrin protein it has been suggested to play a role in the innate immunity regulating the inflammatory response. Several data suggest a role of FMF polymorphisms in worsening recurrent inflammatory diseases. The aim of this study is to analyze the interaction between polymorphisms of this two diseases in order to find possible association. We have analyzed 46 patients with cardiac and neurological diseases holding Fabry's disease polymorphisms. Surprisingly, we have found that out of the 46 patients 9 individuals were bearing also Pyrin allelic mutations (more that 19.6%). Since the percentage of Pyrin mutation in a healthy population is more or less 5%, we can conclude that the presence of these mutations might load of further inflammatory burden the status on Fabry's patients.