Genes DNAI1 and DNAH5 - dyskinesia Primary (Primary ciliary dyskinesia) cilia.
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormal position of the internal organs, and infertility. Signs and symptoms of this disorder are debidosa anomalies cilia and flagella.
The cilia are located in the walls of the airways, the reproductive system, and other organs and tissues. Flagella propel sperm cells forward. In the respiratory tract cilia move back and forth in a coordinated manner to move the mucus toward the pharynx. This movement helps remove fluids, bacteria and particles from the lung. Most newborns with primary ciliary dyskinesia have breathing problems at birth, suggesting that cilia play an important role in the fetus cleaning fluid in the lungs. From early childhood, affected individuals have frequent infections of the respiratory tract. If the cilia do not function properly in the airways, the bacteria remain in the airways and cause infection. Affected individuals also have nasal congestion throughout the year and chronic cough. Chronic infections of the airways may cause bronchiectasis, which damages the bronchi and can lead to potentially fatal respiratory problems.
Some people with primary ciliary dyskinesia have incorrectly placed their bodies in his chest and abdomen. These anomalies arise early embryonic development when the differences between the left and right sides of the body are established. About 50% of people with primary ciliary dyskinesia have situs inversus totalis. For example, in these individuals the heart is located on the right side instead of on the left side. Situs inversus totalis The causes no apparent health problems. Often when an individual with primary ciliary dyskinesia has situs inversus totalis, it is said to have Kartagener syndrome.
Approximately 12% of infected people have heterotaxia or situs ambiguous, characterized by abnormalities in the heart, liver, intestines and spleen. These bodies may be structurally abnormal or improperly placed. In addition, affected individuals may have asplenia or polysplenia. Heterotaxia severity varies widely among affected individuals. In addition, this disease can cause people affected are infertile and have otitis media, especially in young children. If left untreated, otitis media can cause permanent hearing loss. Ear infections are probably related to abnormal cilia in the inner ear. Rarely, people with primary ciliary dyskinesia have hydrocephalus, probably due to abnormal cilia in the brain.
This disease is due to mutations in genes DNAI1 and DNAH5. Mutations in these genes, representing 30% of all cases of primary ciliary dyskinesia. Mutations in other genes associated with this modification are in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disease is unknown.
The DNAI1 gene, located on the short arm of chromosome 9 (9p13.3) and the DNAH5 gene, located on the short arm of chromosome 5 (5p15.2), encode proteins that are part of a complex of proteins called dynein. This complex fulfills functions within the cilia and coordinates the reciprocating movement of the cilia which is necessary for normal functioning of many organs and tissues. Within the axoneme, dynein complexes are known as part of the inner dynein arms (IDA) and the outer dynein arms (ODA), depending on your location structures. The coordinated movement dynein arms makes the whole axonema can bend backward and forward. The movement of the cilia also helps set the left-right axis during embryonic development.
Have identified at least 21 DNAI1 gene mutations and 80 mutations in the DNAH5 gene in people with ciliary dyskinesia primaria.Las mutations in these genes result in defective cilia that beat abnormally or are unable to move. Because the cilia have many important functions in the body, defects in these cell structures give rise to a variety of signs and symptoms.
This disease is inherited in an autosomal recessive pattern, that is, 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 primary ciliary dyskinesia, by complete PCR amplification of the exons of DNAI1 and DNAH5, respectively, and subsequent sequencing genes.
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).