What are the mutations in the MEFV gene in FMF?

What are the mutations in the MEFV gene in FMF?

Distribution of MEFV alleles in the studied population. Types of Mutations in the Studied Population. Heterozygous and homozygous gene mutations were found in 419 patients. The most commonly encountered gene mutations were E148Q (38.6%), M694I (18.1%), and V726A (15.8%) (Figure 2).

What is E148Q?

. E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. , Ann Rheum Dis.

Which methods are used to detect MEFV gene mutation?

MEFV genotyping Molecular diagnosis of mutations was carried out by ARMS-PCR, PCR-RFLP and sequencing methods. A total of twenty one different genotypes were identified between 78 FMF patients.

What is Familial Mediterranean fever?

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints.

How is FMF diagnosed?

A diagnosis of FMF can be confirmed by molecular genetic testing, which can identify the characteristic MEFV gene mutations that cause the disorder. Molecular genetic testing is available through commercial and academic diagnostic laboratories.

Where is the MEFV gene?

The MEFV gene is located on the short (p) arm of chromosome 16 at position 13.3, from base pair 3,292,027 to 3,306,626.

What does the MEFV gene do?

The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin). Although pyrin’s function is not fully understood, it likely assists in keeping the inflammation process under control.

What mutation causes familial Mediterranean fever?

Familial Mediterranean fever is caused by variants (also known as mutations) in the MEFV gene. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells.

Is FMF serious?

Untreated individuals with FMF have a risk of infertility. Individuals with severe FMF characterized by multiple frequent episodes and/or amyloidosis are particularly at risk if untreated. In males, inflammation of the testes (orchitis) may also occur.

What triggers FMF attacks?

The attacks of Familial Mediterranean Fever can have a trigger, as infections, stress, menses, exposure to cold, fat-rich food, drugs. The diagnosis needs a clinical definition of the disease and a genetic confirmation.

Is FMF an autoimmune disease?

Overview. As opposed to an autoimmune disease in which the immune system attacks its own cells, FMF is an autoinflammatory disease in which the innate immune system (the body’s first-line defense) simply doesn’t work as it is should.