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:
“His poor self,
A dedicated beggar to the air,
With his disease of all-shunned poverty,
Walks, like contempt, alone.”
—William Shakespeare (1564–1616)
“And this disease that was Swann’s love had so multiplied, it was so intimately tied to all of Swann’s habits, to all his acts, to his thoughts, to his health, to his sleep, to his life, even to what he desired for his afterlife, his love was so much a part of him that it could not be extracted from him without destroying him entirely: as is said in surgery, his love was inoperable.”
—Marcel Proust (1871–1922)
“John F. Kennedy was the victim of the hate that was a part of our country. It is a disease that occupies the minds of the few but brings danger to the many.”
—Lyndon Baines Johnson (1908–1973)