Familial mediterranean fever pathophysiology: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Familial | {{Familial Mediterranean fever}} | ||
{{CMG}} | {{CMG}}; {{AE}} | ||
==Overview== | |||
==Pathophysiology== | ==Pathophysiology== | ||
Virtually all cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin or marenostenin | *Virtually all cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin or marenostenin. | ||
*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=== | ||
The [[MEFV]] gene is located on the short arm of [[chromosome 16 (human)|chromosome 16]] (16p13). The disease inherits in an [[autosomal recessive]] | *The [[MEFV]] [[gene] is located on the short arm of [[chromosome 16 (human)|chromosome 16]] (16p13) which consists of 10 exons. | ||
*The majority of mutations occur in exon 10. | |||
*The E148Q, M680I, M694V, M694I, and V726A mutations have been observed to be responsible for more than 80% of FMF cases in the Middle Eastern region. | |||
*The disease inherits in an [[autosomal recessive]] mode. However, there is an increasing number of data reporting the autosomal dominant inheritance. | |||
==Associated Conditions== | |||
Conditions associated with Familial Mediterranean fever include: | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | {{WH}} | ||
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[[Category:Inborn errors of metabolism]] | [[Category:Inborn errors of metabolism]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
Revision as of 18:02, 20 May 2019
Template:Familial Mediterranean fever Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Pathophysiology
- Virtually all cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin or marenostenin.
- 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) which consists of 10 exons.
- The majority of mutations occur in exon 10.
- The E148Q, M680I, M694V, M694I, and V726A mutations have been observed to be responsible for more than 80% of FMF cases in the Middle Eastern region.
- The disease inherits in an autosomal recessive mode. However, there is an increasing number of data reporting the autosomal dominant inheritance.
Associated Conditions
Conditions associated with Familial Mediterranean fever include: