Involvement in Disease
Since the tight control of enzyme activity is essential for homeostasis, any malfunction (mutation, overproduction, underproduction or deletion) of a single critical enzyme can lead to a genetic disease. The importance of enzymes is shown by the fact that a lethal illness can be caused by the malfunction of just one type of enzyme out of the thousands of types present in our bodies.
One example is the most common type of phenylketonuria. A mutation of a single amino acid in the enzyme phenylalanine hydroxylase, which catalyzes the first step in the degradation of phenylalanine, results in build-up of phenylalanine and related products. This can lead to mental retardation if the disease is untreated.
Another example of enzyme deficiency is pseudocholinesterase, in which there is slow metabolic degradation of exogenous choline.
Another example is when germline mutations in genes coding for DNA repair enzymes cause hereditary cancer syndromes such as xeroderma pigmentosum. Defects in these enzymes cause cancer since the body is less able to repair mutations in the genome. This causes a slow accumulation of mutations and results in the development of many types of cancer in the sufferer.
Oral administration of enzymes can be used to treat several diseases (e.g. pancreatic insufficiency and lactose intolerance). Since enzymes are proteins themselves they are potentially subject to inactivation and digestion in the gastrointestinal environment. Therefore a non-invasive imaging assay was developed to monitor gastrointestinal activity of exogenous enzymes (prolyl endopeptidase as potential adjuvant therapy for celiac disease) in vivo.
Read more about this topic: Enzyme
Famous quotes containing the words involvement in, involvement and/or disease:
“Not only do our wives need support, but our children need our deep involvement in their lives. If this period [the early years] of primitive needs and primitive caretaking passes without us, it is lost forever. We can be involved in other ways, but never again on this profoundly intimate level.”
—Augustus Y. Napier (20th century)
“Juggling produces both practical and psychological benefits.... A woman’s involvement in one role can enhance her functioning in another. Being a wife can make it easier to work outside the home. Being a mother can facilitate the activities and foster the skills of the efficient wife or of the effective worker. And employment outside the home can contribute in substantial, practical ways to how one works within the home, as a spouse and as a parent.”
—Faye J. Crosby (20th century)
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—Fran Lebowitz (b. 1950)