[From gene to disease; marenostrine and familial Mediterranean fever].
Familial mediterranean fever (FMF) is an autosomal recessive hereditary disorder associated with mutations in the gene on chromosome 16 encoding the protein pyrine (marenostrine). Marenostrine is thought to stimulate the production of an inactivator of a chemotactic factor (possibly C5a). The mutations result in ongoing inflammation, a hallmark of FMF. DNA diagnosis of FMF is operational in Leiden University, the Netherlands, for one year now.
Breuning
M H
MH
Afd. Klinische Genetica, Leids Universitair Medisch Centrum, RC Leiden.
Bakker
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D015936:Complement C5a / Q000037:antagonists & inhibitors; D003169:Complement Inactivator Proteins / Q000096:biosynthesis; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D009154:Mutation; D009426:Netherlands; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
D003169:Complement Inactivator Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin; D015936:Complement C5a