The ATM protein
The ATM protein, sometimes known as the ATM kinase, is a large protein which exists in all the cells of the body. This is the protein that is missing in people with A-T.
ATM plays a very important role (or perhaps series of roles) in the internal mechanisms of the cell and it probably interacts with something in the order of 1,000 different substances within the cell. Scientists are gradually unravelling more details of the hugely complex interactions of ATM but these go way beyond the scope of this website.
The best known role of ATM is in the repair of breaks in DNA. DNA consists of long double strands of chemical units and sometimes these break. When this happens ATM seems to have a role both in signalling to the cell that damage has occurred and that this should be repaired before continuing with the cell's cycles, and also in recruiting other proteins to repair the damage.
DNA damage and double-strand breaks can have a variety of causes, but one external cause of these is ionizing radiation, such as that produced by X-rays. It is the reduced ability to repair the damage caused by this radiation, which makes it so dangerous to people with A-T.
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