Ataxia-telangiectasia mutated kinase is a serine threonine kinase that is recruited and activated by double stranded breaks of DNA and the MRN complex. It phosphorylates several key proteins that initiate cell cycle arrest, DNA repair or apoptosis. Several of these targets, including p53, Chk2, Brca1, and H2AX are tumor suppressors. In biochemistry, a kinase is a type of enzyme that transfers phosphate groups from high-energy donor molecules, such as ATP, to specified substrates or target molecules; the process is termed phosphorylation. Generally, the purpose of phosphorylation is to activate or energize a molecule, increasing its energy so it is... Human p53 protein bound to a short DNA fragment. ...
Ataxiatelangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body.
Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life.
NCI is sponsoring a wide variety of research on A-T, DNA mutations and repair, and the interaction between ATM and mutations in BRCA1 and 2 (breast cancer susceptibility genes).
AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction (Boder, 1958).
Oculo-cutaneous telangiectasia is often not obvious in the early stages of the disease.
Carriers of ATM missense mutations are believed to have a 60% penetrance by age 70 and a risk of breast cancer 16x that of the normal population.
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