Ataxia Telangiectasia

Ataxia Telangiectasia (A-T) is an inherited disorder [1,2]. The clinical presentations of the AT are due to an autosomal recessive mutation in the Ataxia Telangiectasia (ATM) gene. The ATM protein is a ,370 kDa Ser/Thr kinase, which is localized in the cytoplasm and nucleus [2]. In response to oxidative stress, ATM protein is phosphorylated at Ser-1981 [1,2]. This phosphorylation activates the kinase activity, which results in phosphorylation of its substrates, including the AMP-activated protein kinase-a
(AMPKa) and p53 [2,3]. Interestingly, activation of the ATM kinase in the cytoplasm regulates autophagy through activation of
AMPK
[4,5].