Ataxia-telangiectasia (AT) is an inherited disorder that involves the degeneration of the nervous system and is characterized by impaired mobility, telangiectasias (tiny red spots on the skin), and susceptibility to infections and cancer. The mode of inheritance of AT is autosomal recessive, meaning that an individual must inherit two mutated copies of the AT gene (one from each parent) in order for the disorder to manifest itself.
The AT gene is located on chromosome 11 and is responsible for producing a protein called ATM (ataxia telangiectasia mutated). This protein is essential for DNA repair and cell cycle regulation, and mutations in the AT gene lead to reduced production of the ATM protein. When there is a lack of the ATM protein, cells are unable to properly respond to DNA damage and are more at risk of developing cancer.
Another symptom of AT is a weakened immune system, which is also caused by the lack of the ATM protein. This weakened immune system makes individuals with AT more susceptible to infections and cancer.
In conclusion, Ataxia-telangiectasia is an inherited disorder that is caused by mutations in the AT gene and is inherited in an autosomal recessive manner. Individuals with the disorder have impaired mobility, telangiectasias, and a weakened immune system, which leads to an increased risk of infections and cancer.