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MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever

N Akar1, M Misiroglu, F Yalcinkaya

  • 1Pediatric Molecular Pathology and Nephrology Departments, Ankara University, Ankara, Turkey.

Human Mutation
|December 29, 1999
PubMed

Insights

Familial Mediterranean fever (FMF) in Turkey is genetically diverse, with common mutations like M694V being prevalent. Molecular diagnosis is feasible, aiding in understanding FMF origins and associated amyloidosis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • FMF primarily affects populations including Sephardic Jews, Arabs, Armenians, and Turks.
  • The gene responsible for FMF, MEFV, has been identified, with several disease-associated mutations described.

Purpose of the Study:

  • To evaluate the frequency of seven MEFV mutations in Turkish FMF patients.
  • To determine the contribution of common and rare mutations to FMF in Turkey.
  • To investigate the association between specific MEFV mutations and amyloidosis in FMF patients.

Main Methods:

  • Analysis of 460 chromosomes from 230 unrelated Turkish FMF patients.
  • Utilized Polymerase Chain Reaction (PCR) methods to detect MEFV mutations.
  • Evaluated seven specific MEFV mutations: M694V, M680I, V726A, M694I, R761H, K695R, and E148Q.

Main Results:

  • The M694V allele was the most frequent (43.5%), with 19.1% of patients being homozygous.
  • M680I and V726A were also common, accounting for 12.0% and 11.1% of patients, respectively.
  • Three common mutations (M694V, M680V, V726A) accounted for two-thirds of disease alleles, and 79.6% of patients carried at least one main mutation.
  • Amyloidosis was observed in 28 patients, with M694V being the most common mutation among them.
  • Overall, 84.3% of patients carried at least one of the seven studied mutations.

Conclusions:

  • The genetic origin of FMF in Turkey is heterogeneous, with a significant contribution from multiple MEFV mutations.
  • Common FMF mutations are associated with the development of amyloidosis.
  • Rapid and accurate molecular diagnosis of FMF is achievable in the majority of Turkish patients.

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