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MEFV mutation analysis of familial Mediterranean fever in Japan

N Tomiyama1, Y Higashiuesato, T Oda

  • 1Department of Cardiovascular Medicine, Nephrology and Neurology, University of the Ryukyus, Nishihara, Okinawa, Japan. tomiyama-npr@umin.ac.jp

Clinical and Experimental Rheumatology
|March 11, 2008
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) is rare in Japan, but MEFV gene mutations are present in Japanese patients. Genetic analysis confirms MEFV mutations, with E148Q and M694I being common alleles, aiding FMF diagnosis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Rheumatology

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease.
  • MEFV gene mutations are typically found in Mediterranean populations.
  • FMF is rare in Japan, with limited mutation analysis data.

Purpose of the Study:

  • To investigate clinical and genetic features of FMF in Japanese patients.
  • To perform mutation analysis of the MEFV gene in Japanese FMF cases.
  • To examine genotype-phenotype correlations in Japanese FMF patients.

Main Methods:

  • Molecular genetic studies were conducted on 12 Japanese FMF patients and 17 relatives.
  • Patients met the Tel Hashomer criteria for FMF diagnosis.
  • Detection of MEFV gene mutations and analysis of genotype-phenotype correlations.

Main Results:

  • Identified MEFV mutations E84K, L110P, E148Q, R761H, and M694I in Japanese FMF patients.
  • E148Q and M694I were the most frequently detected substitutions.
  • Systemic amyloidosis was observed in one patient homozygous for M694I.

Conclusions:

  • MEFV mutations are present in Japanese FMF patients, despite the disease's rarity in Japan.
  • Identification of MEFV mutations serves as a reliable diagnostic tool for FMF.
  • E148Q and M694I are frequent MEFV alleles in the Japanese population studied.

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