Human Disease
Down syndrome is a medical condition characterized by an overexpression of cystathionine beta synthase (CBS) and a low level of homocysteine in the blood. It has been speculated that cystathionine beta synthase overexpression could be the major culprit in this disease (along with dysfunctioning of GabaA and Dyrk1a). The phenotype of down syndrome is the opposite of Hyperhomocysteinemia (described below). Pharmacologicals inhibitors of CBS have been patented by the Jerome Lejeune Foundation (November 2011) and trials (animals and humans are planned).
Hyperhomocysteinemia is a medical condition characterized by an abnormally large level of homocysteine in the blood. Mutations in CBS are the single most common cause of hereditary hyperhomocysteinemia. Inborn errors in CBS result in hyperhomocysteinemia with complications in the cardiovascular system leading to early and aggressive arterial disease. Hyperhomocysteinemia also affects three other major organ systems including the ocular, central nervous, and skeletal.
Homocystinuria due to CBS deficiency is a special type of hyperhomocysteinemia. It is a rare, hereditary recessive autosomal disease, in general, diagnosed during childhood. A total of 131 different homocystinuria-causing mutations have been identified. A common functional feature of the mutations in the CBS domains is that the mutations abolish or strongly reduce activation by adoMet. No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6, which is a cofactor of CBS.
Read more about this topic: Cystathionine Beta Synthase
Famous quotes containing the words human and/or disease:
“How marvellous it all is! Built not by saints and angels, but the work of men’s hands; cemented with men’s honest blood and with a world of tears, welded by the best brains of centuries past; not without the taint and reproach incidental to all human work, but constructed on the whole with pure and splendid purpose. Human, and yet not wholly human—for the most heedless and the most cynical must see the finger of the Divine.”
—Archibald Philip Primrose, 5th Earl Rosebery (1847–1929)
“Your responsibility as a parent is not as great as you might imagine. You need not supply the world with the next conqueror of disease or a major movie star. If your child simply grows up to be someone who does not use the word “collectible” as a noun, you can consider yourself an unqualified success.”
—Fran Lebowitz (20th century)