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:
“It is said, proverbially, that happy is the doctor who is called in when the disease is on its way out.”
—François Rabelais (1494–1553)
“Smoking ... is downright dangerous. Most people who smoke will eventually contract a fatal disease and die. But they don’t brag about it, do they? Most people who ski, play professional football or drive race cars, will not die—at least not in the act—and yet they are the ones with the glamorous images, the expensive equipment and the mythic proportions. Why this should be I cannot say, unless it is simply that the average American does not know a daredevil when he sees one.”
—Fran Lebowitz (b. 1950)
“All my humor is based upon destruction and despair. If the whole world were tranquil, without disease and violence, I’d be standing on the breadline right in back of J. Edgar Hoover.”
—Lenny Bruce (1925–1966)