Ataxia-telangiectasia (A-T) is a rare, genetic, progressive, degenerative disorder that affects many parts of the body and primarily impacts the immune and nervous systems. Generally, the disorder is caused by a mutation in a gene known as ATM (ataxia-telangiectasia mutated). This gene is responsible for producing a protein that helps to maintain the health of cells.
At the cellular level, A-T affects cells in several ways. First, it leads to a decrease in the production of an enzyme called ataxia telangiectasia group D-complementing activity (ATDC). This enzyme is important for maintaining the integrity of the cell membrane and DNA. Without it, the cell membrane and DNA become damaged, leading to abnormal cell function and growth.
Second, A-T causes an increase in the production of reactive oxygen species (ROS). ROS are highly reactive molecules that can damage cell membranes and DNA. This increased production of ROS can lead to further damage of the cell membrane and DNA, leading to further dysfunction and growth.
Third, A-T can cause an increase in the production of free radicals. Free radicals are highly reactive molecules that can damage cell membranes and DNA. This increased production of free radicals can lead to further damage of the cell membrane and DNA, leading to further dysfunction and growth.
Finally, A-T can lead to an increase in the production of cytokines. Cytokines are molecules that help regulate the immune system and can have an effect on the growth, development, and death of cells. An increase in cytokine production can lead to abnormal cell growth and death.
In summary, Ataxia-telangiectasia affects cells in several ways, including a decrease in the production of ATDC, an increase in the production of ROS and free radicals, and an increase in the production of cytokines. These changes can lead to an abnormal cell growth and death, resulting in the symptoms associated with A-T.