What is Costello syndrome?
Costello syndrome is a genetic disorder that causes developmental delays, intellectual disabilities and physical properties such as cardiac abnormalities. Children born with syndrome are also more likely to develop certain types of cancer. The syndrome is extremely rare and there were only a few hundred reports around the world. This gene encodes a protein involved in controlling cell division and growth. In children with disorder, the Grass Gen is permanently on. This causes cells to grow and divide constantly, instead only in response to extracellular hints. The genetic mutation is autosomal, which means that the child needs only one copy of the defective gene to develop a disorder. Almost all cases have emerged from spontaneous mutations. Other disturbances of the disorder include intellectual disability, developmental delay and congenital heart defects such as flap pulmonic stenosis or arrhythmia. Common physical properties include large mouths and full lips, relaxed skin, papilloma of the face or koUnnatural and tight Achilles tendon. Children also have an increased risk of developing certain types of cancer. Approximately 15% develop tumors such as rabdomyosarcoma, neuroblastoma or bladder cancer as children or adolescents.
The diagnosis of syndrome is based on the documentation of the above characteristics and genetic testing to confirm the presence of mutation of the dora. There are no treatment that could cure a disorder or prevent symptoms. Most Costello treatment is based on the prevention or treatment of secondary complications and some are performed to try to repair certain symptoms.
One of the mooy problems for treatment is the inability to prosper, which is the result of postnatal feeding problems. Children who cannot feed without help are fed by nasogastric tubes or gastrostomy. Heart problems and cancer cannot be prevented but are regularly examined and treated, jaIn the same way, they arise. Symptoms, such as the tightening of the Achilles, are treated by surgery, while papillomas are routinely removed by treating dry ice.
children are also susceptible to secondary complications. Hypertrophic cardiomyopathy, heart muscle reinforcement, is a common heart symptom that makes children vulnerable to anesthesia complications. Children with valvular pulmonic stenosis reduced blood flow to the lungs and are endangered by subacute bacterial endocarditis. These children must usually take prophylactic antibiotics to prevent endocarditis, infection of the inner layer of the heart.
Research on Costello treatment has developed slowly, partly because there are so few people with disorder. As a result, testing treatment is very difficult because clinical studies require a statistically significant number of individuals. Many scientists believe that only one medicine can be tested at once, which means that it is necessary to make a choice to try first. With little information about how effective wouldDrugs could have been, it is a difficult choice.
A recent development that can solve this problem is to create an animal model Zebrafish for a failure. In this animal model, Zebrafish has been genetically terminated, so it has a mutation that causes Costello syndrome in humans. The Zebrafish animal model can then be used to perform preliminary drug tests. This means that scientists can make a more educated choice of drugs to try syndrome children.