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:
“Narcissist: psychoanalytic term for the person who loves himself more than his analyst; considered to be the manifestation of a dire mental disease whose successful treatment depends on the patient learning to love the analyst more and himself less.”
—Thomas Szasz (b. 1920)
“Health is a state of complete physical, mental and social well-being, and not merely the absence of disease or infirmity.”
—Constitution of the World Health Organization.
“The inconveniences and horrors of the pox are perfectly well known to every one; but still the disease flourishes and spreads. Several million people were killed in a recent war and half the world ruined; but we all busily go on in courses that make another event of the same sort inevitable. Experientia docet? Experientia doesn’t.”
—Aldous Huxley (1894–1963)