Familial Mediterranean fever – Pathophysiology

Virtually all cases are due to a mutation in the ''MEFV'' gene on the sixteenth chromosome, which codes for a protein called ''pyrin'' or ''marenostrin''. Various mutations of this gene lead to FMF, although some mutations cause a more severe picture than others.

Virtually all cases are due to a mutation in the ''MEFV'' gene on the sixteenth chromosome, which codes for a protein called ''pyrin'' or ''marenostrin''. Various mutations of this gene lead to FMF, although some mutations cause a more severe picture than others. Mutations occur mainly in exons 2, 3, 5 and 10.

The function of pyrin has not been completely elucidated, but it appears to be a suppressor of the activation of caspase 1, the enzyme that stimulates production of interleukin 1β, a cytokine central to the process of inflammation. It is not conclusively known what exactly sets off the attacks, and why overproduction of IL-1 would lead to particular symptoms in particular organs (e.g. joints or the peritoneal cavity).


Adapted from the Wikipedia article Familial Mediterranean fever, under the G. N. U. Free Documentation License. Please also see http://en.wikipedia.org/wiki








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