Notch signaling in human disease

The Notch pathway plays an important role in many stem-cell lineages, including those in the blood system, gut, breasts, and muscles. Notch signaling not only occurs in stem-cell lineages but is also active in adult tissues and differentiated cells. Aberrant Notch activation can result in dramatic developmental effects in humans, implicating Notch signaling in several inherited diseases [Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukaencephalopathy (CADASIL), Alagille syndrome and spondylocostal dysostosis (SCDO)], and cancers (leukaemia, skin, cervical, lung and breast cancer )]. Many studies have shown that Notch activation plays a role in the onset and progression of many human malignancies.