Ataxia-telangiectasia (AT) is a multisystemic disorder caused by mutations in the ATM gene. This gene encodes a protein involved in the control of cell division by repairing DNA damage. The ATM protein helps detect damaged DNA strands and coordinates double helix repair by activating specific enzymes, such as p53. Defects in the ATM gene result in a dysfunctional protein, without which there is no efficient DNA repair; therefore, the cells become unstable and eventually die. Immune cells and cerebellar cells are particularly affected by the loss of functional ATM protein.
For this reason, ataxia and immunodeficiency are among the main symptoms of this syndromic condition. In addition, since cells do not respond effectively to DNA damage, mutations can
progressively accumulate in the DNA and eventually lead to the formation of cancerous tumors.
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