How does ataxia-telangiectasia cause cancer?
The loss of these brain cells causes some of the movement problems characteristic of ataxia-telangiectasia. Mutations in the ATM gene also prevent cells from responding correctly to DNA damage, which allows breaks in DNA strands to accumulate and can lead to the formation of cancerous tumors.
Is ataxia-telangiectasia a cancer?
Ataxia-telangiectasia (A-T) is a pleiotropic inherited disease characterized by neurodegeneration, cancer, immunodeficiencies, radiation sensitivity, and genetic instability. Although A-T homozygotes are rare, the A-T gene may play a role in sporadic breast cancer and leukemia.
How does ataxia-telangiectasia affect the body?
The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system (i.e., cellular and humoral …
What is the life expectancy of someone with ataxia telangiectasia?
Ataxia telangiectasia is a rare, multiorgan neurodegenera- tive disorder with enhanced vulnerability to cancer and infection. Median survival in two large cohorts of patients with this disease, one prospective and one retrospective, is 25 and 19 years, with a wide range.
What is Bloom’s syndrome?
Listen to pronunciation. (… SIN-drome) A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer.
How do you test for ataxia telangiectasia?
How is ataxia-telangiectasia diagnosed?
- Specialized tests to measure the amount of ATM protein in cells. …
- Blood tests to measure the level of a protein called alpha-fetoprotein. …
- Radiosensitivity test to measure how well a cell can repair damaged DNA.
How is ataxia telangiectasia treated?
Although no specific treatment is available, several features of ataxia-telangiectasia are accessible to active therapy. This applies especially to infections. Correction of ATM mutations may hold promise for the future.
What are the symptoms of ataxia telangiectasia?
- Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar ataxia), jerky gait, unsteadiness.
- Decreasing mental development, slows or stops after age 10 to 12.
- Delayed walking.
- Discoloration of skin areas exposed to sunlight.
What is telangiectasia caused by?
The exact cause of telangiectasia is unknown. Researchers believe several causes may contribute to the development of telangiectases. These causes may be genetic, environmental, or a combination of both. It’s believed that most cases of telangiectasia are caused by chronic exposure to the sun or extreme temperatures.
How rare is the ATM gene?
A-T is rare. It is estimated that A-T affects 1 in 40,000 to 1 in 100,000 people. The chance that a person is a carrier of a single ATM gene mutation is about 1%, or 1 in 100.