Technology Bundle ID

Identification Of The Gene Causing Familial Mediterranean Fever

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Lead Inventors
Daniel Kastner (NIAMS)
Deborah Guinicio (EM)
Deng Zuoming (NIAMS)
Francis Collins (NHGRI)
Ivona Aksentijevich (NIAMS)
Michael Centola (NIAMS)
Nathan Fischel-gluodsi (EM)
Pu Liu (NHGRI)
Sood Raman (NIAMS)
Trevor Blake (NHGRI)
The invention identifies the gene (MEFV) encoding the protein (pyrin) that is associated with familial Mediterranean fever (FMF). FMF, a recessive inherited disorder, is characterized by episodes of fever, inflammation, and unexplained arthritis, pleurisy, or abdominal pain. Pyrin is thought to a play a role in keeping inflammation under control, whereas mutated forms lead to a malfunctioning protein and uncontrolled inflammation. Mutated forms of MEFV were isolated and correlated to FMF disease. It is anticipated that the immediate use of the pyrin gene and its mutations will be to aid in the diagnosis of FMF. It may also prove useful for evaluating FMF as a possible cause of currently unexplained fevers or abdominal pain. The normal gene and its mutations may also be useful for studying and controlling inflammation.

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