What is Cockayne syndrome?

Cockayne syndrome is a genetic disorder that results in his victims have a short figure and premature aging. This can also lead to a small head, also called microcephaly, prevented the development of the nervous system and photoccty. Patients are usually unable to gain weight or normally grow. They can also develop abnormalities in the eyes and problems with their internal organs.

There are several subtypes of Cockayne syndrome. These are type I, type II and type III. Type I evolves in early childhood and manifests itself in the first two years of human life. Type II, also called cerebro-some-facio-and-srpn syndrome (COFS) or Pena-Shokeir type II syndrome, develops at birth and is the most serious type. Type III is a mild version and is late in childhood. These two genes have to do with helping to repair the body damaged deoxyribonucleic acid (DNA). Ultraviolet light and toxicThe substances can cause DNA damage. However, the human body is ready for this situation. These two genes produce proteins that correct DNA in front of cell function.

ERCC6 gives body instructions for the production of protein involved in the repair of the damaged DNA. This protein can also help with transcription, which is the process in which the plan for the gene is performed. ERCC8 causes proteins that help cells recover when their DNA is damaged. When any of these genes are mutated, DNA is not repaired. Building damaged DNA can result in several failures, while Cockayne's syndrome is one of them.

One gets Cockayne syndrome when both of their parents pass the mutated gene of the case. Cockayne's syndrome is transmitted in an autosomal recessive pattern, which means that both copies of human gene have to be mutated to develop syndrome. Parents of a person with Cockayne syndrome have one mutovAnguo gene and one normal gene. Since the property for Cockayne syndrome is recessive, parents will not develop syndrome. However, a person with Cockayne syndrome will have two copies of the mutated genes concerned and receive one of each parent.

There is no cure for Cockayne syndrome. Treatment of syndrome can only treat the symptoms of the disease. The feeling of the disease must undergo physical therapy to maintain the ambition - the ability to walk around - and to prevent contracts - when muscles or tendons in the human body shortens. Suffering will also have to use a lot of sunscreen to reduce sunlight and prevent ultraviolet light to destroy DNA. Perhaps they must also visit several specialists during treatment.