Familial mediterranean fever pathophysiology
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Familial Mediterranean Fever Microchapters |
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Differentiating Familial Mediterranean Fever from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Pathophysiology
Virtually all cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin or marenostenin. This was discovered in 1997 by two different groups, each working independently - the French FMF Consortium,[1] and the International FMF Consortium[2] Various mutations of this gene lead to FMF, although some mutations cause a more severe picture than others. Mutations occur in exons 2, 3, 5 and 10.[3]
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).[3]
Genetics
The MEFV gene is located on the short arm of chromosome 16 (16p13). The disease inherits in an autosomal recessive fashion. Therefore, two asymptomatic carrier parents have a 25% chance of a child with the disorder. FMF patients who marry a carrier or another FMF patient have a 50% and 100% chance, respectively, in having a child with FMF.[1][2]
References
- ↑ 1.0 1.1 The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31. PMID 9288094
- ↑ 2.0 2.1 The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797-807. PMID 9288758.
- ↑ 3.0 3.1 Invalid
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