The cloves or Proteus syndrome is caused by a gene mutation, which causes severe deformities with time. The syndrome probably reach approximately 150 people worldwide and has various physical, motor and neurological complications. Most typical is overwhelming deformities consisting of connective tissue or vetbulten and damaged a mosaic certain body internally and externally to. What is the Proteus syndrome or Cloves in and how it can lead to early death?
Macrodactylie first sign
Cause premature death
When Cloves Proteus syndrome, also called syndrome, the body deforms progressively with time. This is caused by a genetic defect, said distributed in and on the body deformities occur. It may involve connective tissue growth or excessive vetbulten, leaving organs, skin and spine come under pressure. It leads to disfigurement, neurological and motor problems and may involve potential cancer. What is the Proteus, Cloves syndrome, what causes it and what are the complications?
On the long arm of chromosome 14 is located at position 32.32 the gene AKT1 also known as the v-akt murine thymoma viral oncogene homolog 1 mentioned gene. It is responsible for issuing instructions to the AKT1 protein kinase. It plays an important role in the signaling pathways, helps cell growth, splitter and ?? survival. It causes apoptosis, which is programmed cell death is kept under control. In addition, the effect on the proper functioning of the nervous system and neurological processsen. Because it is an oncogenic gene, it is particularly susceptible to malignant cancer to develop.
The abnormality or mutation in the AKT1 gene in this syndrome is not uniform across all cells. It means that certain parts of the body do have affected cells and other parts do not. It is, as it were a mosaic structure in which deformations occur locally and not otherwise possible. Moreover, it depends on, at which point mutations occur during growth. The sooner it is implemented, the greater the effects are. This is because a larger portion of the body is affected and may have more severe adhesions. A dysregulated apoptosis means that cells slowed to pass cell death and therefore stimulates excessive growth.
Basically, the baby may be normal in the world, but mostly the first adhesions will be visible. Think of a thickening of a finger or toe. This can either be caused by excessive bone formation or excessive growth of connective tissue. Macrodactylie is therefore a first sign that they have this disease. As the child grows older, the proportion of adhesions takes over and some parts will grow out of proportion. Consider growing a lopsided head, bochelrug, scoliosis and deformity of the limbs. In principle, these deviations can occur anywhere in or on the body.
The hands of local increase in tissue growth, one has many vetbultgroei ie excessive lipoma development. These occur in the skin, but can also in organs develop. It leads to internal pressure on the member, such that the functioning is progressively compromised. Think of a hump in the brains, causing nerve and brain tissue will be placed under pressure. This leads to motor and / or mental problems and may be associated with seizures. In addition, it can change the shape of the body, in that the spine is in the affliction.
The kinase AKT1 protein is also responsible for the proper functioning of neurological processes and information transmission via neural pathways. As soon as the quality thereof decreases, there is decrease in communication between body parts, organs and tissues, with the brains. This also results in distinct physical and neurological problems.
Because there is a growth of tissue in combination with the oncogenic factor, the risk of cancer is relatively high. Usually, it will cause in the first place for the tenth year ovarian cancer or oorspeekselklierkanker. In a later route may also be other types of cancer to develop. This is because the gene is active in the entire body and, as such, can proceed quickly to cancer.
Besides cancer the child has a severely degraded resistance. Certainly, the lungs are extra sensitive, wherein lung cysts, severe pneumonia or pulmonary embolism by deep vein thrombosis may be applicable. Because the condition of the person in different areas deteriorates progressively, one will arrive at an early stage by a combination of the above complications dies.
Because there is a genetic defect, it is not until now curable. Or the symptoms are treated so that they have less of a nuisance it. Consider removing vetbulten and connective tissue under the skin possibly combined with anticonvulsants. In addition, on an experimental basis in the United States vetbulten from organs or the brains are removed. It improves the quality of life and may delay the time of death.