Familial mediterranean fever pathophysiology: Difference between revisions
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==Pathophysiology== | ==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,<ref name=FConsort>The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31. PMID 9288094</ref> and the International FMF Consortium<ref name=IConsort>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.</ref> Various mutations of this gene lead to FMF, although some mutations cause a more severe picture than others. Mutations occur in [[exon]]s 2, 3, 5 and 10. | 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,<ref name=FConsort>The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31. PMID 9288094</ref> and the International FMF Consortium<ref name=IConsort>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.</ref> Various mutations of this gene lead to FMF, although some mutations cause a more severe picture than others. Mutations occur in [[exon]]s 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 [[IL-1|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). | 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 [[IL-1|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). | ||
===Genetics=== | ===Genetics=== | ||
Revision as of 21:17, 5 March 2013
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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.
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).
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.