Ataxia Telangiectasia Research Paper

Ataxia Telangiectasia

Ataxia Telangiectasia (A-T) is an inherited disorder that affects the nervous system, immune system, and other systems of the body. The disorder usually progresses before the age of 5 and it makes it difficult for coordination and causes delayed development of motor skills like walking, problems with balancing, and using your hands to grab items etc. A person may even have slurred speech, sway when they walk and wobble. These problems can affect a person as they get older and the effects can become worse as the person ages. Effects vary with each patient some may have severe immunodeficiency in which they cannot produce antibodies to fight off disease.

Ataxia Telangiectasia is a rare inherited disorder that develops

The ATM gene is involved with making proteins that help regulate the growth and division of cells. The ATM gene is also involved in the making of some of the bodies systems, immune, etc. Another essential role of the ATM gene is helping to detect DNA strands that are defective. When defective DNA strands are detected the ATM gene helps coordinate their repairs. Repairing the defective DNA in a cell helps maintain a cells genetic information. In A-T the ATM gene is disrupted in the making of proteins that regulate cell growth. These mutated genes do not repair DNA damage instead they allow for these defects to be spread into other cells. This allows for uncontrolled division and growth of cells which can lead to cancerous tumors. These mutations also allow for unwanted cell death which leads to the loss of important cells in the brain involved with coordination. People who are carriers of a mutated ATM gene are likely to develop one of the following cancers: breast, stomach, bladder, pancreas, lung, and

Many patients affected by ataxia telangiectasia are expected to develop some type of cancer. The development of cancers is very likely in someone affected because the immune system is weakened by ataxia telangiectasia. Cancers such as stomach, brain, ovary, skin, liver, larynx, parotid gland, and breast are some of the possible developments. The life span of patients affected by the disease has been increasing throughout the years depending on mutations in a persons ATM gene. These mutations determine the severity of the symptoms seen in patients. Some patients with slowed progression of the disease have survived into their 50s.

There is currently no known cure for ataxia telangiectasia. Although there is no definitive cure research paths have been discovered to find a cure. These paths include gene therapy, the design of drugs to correct the function of altered proteins, and direct replacement of the functional protein. The disease can be controlled with therapy depending on what the person is affected with. Gamma-globulin injections can help supplement the weakened immune