Loss of function mutations in STK11, encoding the Ser/Thr protein kinase, LKB1 are responsible for the familial hamartoma syndrome, Peutz Jeghers Syndrome (PJS). Importantly, recent studies have revealed sporatic mutations in STK11 in a variety of human cancers, including lung adenocarcinomas. LKB1 phosphorylates and activates AMP dependent protein kinase in response to energy stress, and thus plays a key role in energy homeostasis. Read more.
Last Updated: March 25, 2015
Impairments in the ability of insulin to stimulate PI3K in liver and muscle results in insulin resistance and type 2 diabetes, while genetic aberrations that result in hyper-activation of PI3K in epithelial tissues results in cancers. Activating mutations in PIK3CA, the gene encoding the p110 [unreadable] catalytic subunit of PI3K, are among the most frequent oncogenic occurrences in epithelial cancers. Read more.