Familial Mediterranean fever and E148Q pyrin gene mutation in Greece

Area of Science:

• Genetics
• Immunology
• Molecular Biology

Background:

• Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease causing recurrent polyserositis.
• While traditionally associated with Middle Eastern populations, FMF affects diverse ethnic groups.
• The MEFV gene mutations, encoding pyrin protein, are linked to FMF, but the E148Q mutation's role is debated.

Purpose of the Study:

• To investigate the association of the E148Q MEFV gene mutation with FMF in a Greek population.
• To clarify the potential causative or non-causative role of the E148Q mutation in FMF pathogenesis.

Main Methods:

• Genotyping of 60 Greek FMF patients (30 definite, 30 probable) for MEFV gene mutations.
• Analysis of E148Q mutation frequency in patients compared to healthy controls.
• Examination of E148Q mutation in homozygous and compound heterozygous states.

Main Results:

• The E148Q mutation was found in 21 out of 60 FMF patients.
• One patient was homozygous (E148Q/E148Q), and 20 were compound heterozygotes.
• E148Q mutation was significantly more frequent in FMF patients than in healthy controls.
• No mutations were detected in 6 of the 60 studied cases.

Conclusions:

• The E148Q MEFV gene mutation is significantly associated with FMF in the Greek population.
• The findings support a role for E148Q, particularly in conjunction with other mutations, in FMF development.
• Population-specific analysis of pyrin mutations, including E148Q, is crucial for understanding FMF.