Familial Mediterranean fever

Familial Mediterranean fever (FMF) is a human gene containing instructions for the synthesis of the protein pyrin (also known as marenostrina). It occurs in certain white blood cells (neutrophils, eosinophils and monocytes) that play a role in inflammation and fighting infection.

These leukocytes are found in the cytoskeleton. Its structure also allows you to interact with other molecules involved in fighting infections and inflammatory responses. Although its function is not fully understood, it is probably to keep inflammation under control.

Research indicates that regulation of inflammation is done through interaction with the cytoskeleton. The familial Mediterranean fever gene is located on the short arm (p) of chromosome 16 in position 13.3, from the pairs 3232028-3246627.

Familial Mediterranean Fever has more than 80 mutations. A few small mutations are defective in DNA fragments of the gene FMF, which leads to the synthesis of an abnormally small pyrin.

Most mutations in the gene FMF, however, change one or more amino acids in the protein sequence. The most common mutation changes the amino acid methionine at the amino acid valine at position 694 (written Met694Val or M694V).

Among patients with familial Mediterranean fever, this particular mutation is also associated with an increased risk of developing amyloidosis, a complication in which abnormal protein deposits can lead to kidney failure.

Some evidence suggests that another gene, called SAA1, modifies the risk of amyloidosis among patients with the mutation M694V.

Mutations in FMF lead to reduced amounts of pyrin or misfolded proteins that can not carry out the job properly. As a result, pyrin can not develop its alleged role in controlling inflammation, leading to inappropriate or overly long inflammatory responses. Fever and swelling in the abdomen, chest, joints or skin, are signs of familial Mediterranean fever.