Disease
SMAD4, is often found mutated in many cancers. It acts as a tumor suppressor that functions in the regulation of the TGF-β signal transduction pathway, which negatively regulates growth of epithelial cells and the extracellular matrix (ECM). SMAD4 alterations have been found in multiploid colorectal cancer and pancreatic carcinoma. It is found inactivated in at least 50% of pancreatic cancers. It is also found mutated in the autosomal dominant disease juvenile polyposis syndrome (JPS). JPS is characterized by hamartomatous polyps in the gastrointestinal (GI) tract. These polyps are usually benign, however they are at greater risk of developing gastrointestinal cancers, in particular colon cancer.
Somatic mutations found in human cancers of the MH1 domain of Smad4 have been shown to inhibit the DNA-binding function of this domain.
Read more about this topic: Mothers Against Decapentaplegic Homolog 4
Famous quotes containing the word disease:
“The artistic temperament is a disease that affects amateurs.... Artists of a large and wholesome vitality get rid of their art easily, as they breathe easily or perspire easily. But in artists of less force, the thing becomes a pressure, and produces a definite pain, which is called the artistic temperament.”
—Gilbert Keith Chesterton (1874–1936)
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