Otulipenia (Otulipenia) - Gen OTULIN
The otulipenia, also known as autoinflammatory syndrome related OTULIN is a genetic condition characterized by abnormal inflammation throughout the body. Inflammation is a normal immune response to injury and foreign invaders (such as bacteria). However, uncontrolled inflammation, which occurs in the otulipenia, can damage many organs and tissues, including the gastrointestinal system, joints and skin.
Signs and symptoms of otulipenia usually begin in the first weeks of life, with recurrent episodes of fever, diarrhea, pain and swelling of joints and skin rashes. Skin rashes due to inflammation of the layer of fatty tissue under the skin, causing painful red bumps. Some people with lipodystrophy have otulipenia. In addition, affected children have difficulties to grow and gain weight at the expected rate. Untreated, this genetic alteration can be fatal due to the damage it causes inflammation in the tissues and organs of the body.
The otulipenia is due to changes in gene OTULIN (OTU deubiquitinase With linear linkage specificity), located on the short arm of chromosome 5 (5p15.2), which encodes a protein that helps regulate inflammation. Inflammation occurs when the immune system sends signaling molecules and leukocytes to a site of injury or disease to combat the invaders and facilitate tissue repair. Inflammation can be activated by ubiquitination, a cellular process in which ubiquitin molecules bind to certain proteins. When foreign invaders are recognized, linear ubiquitin chains, bind to particular proteins. The addition of these chains stimulates signaling pathways that lead to inflammation. Once the infection is under control, the body stops the inflammatory response to avoid damage to its own cells and tissues. The OTULIN protein helps control inflammation by removing linear ubiquitin chains. Besides inflammation, it is believed that OTULIN protein is involved in the regulation of development before birth and control of cell death.
They have been described at least three mutations in the gene in people with OTULIN otulipenia. The genetic mutations involved in otulipenia reduced function protein OTULIN. As a result, it affected the removal of linear chains of ubiquitin, and the signaling pathways leading to inflammation are abnormally active. Excessive inflammation is responsible for the signs and symptoms of otulipenia and damage organs in the body.
The otulipenia is inherited as an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with otulipenia, by complete PCR amplification of exons OTULIN gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).