Role in Disease
Deficiency of factor XIII (a rare genetic condition) predisposes to hemorrhage; concentrated enzyme can be used to correct the abnormality and reduce bleeding risk.
Anti-transglutaminase antibodies are found in celiac disease and may play a role in the small bowel damage in response to dietary gliadin that characterises this condition. In the related condition dermatitis herpetiformis, in which small bowel changes are often found and which responds to dietary exclusion of gliadin-containing wheat products, epidermal transglutaminase is the predominant autoantigen.
Recent research indicates that sufferers from neurological diseases like Huntington's and Parkinson's may have unusually high levels of one type of transglutaminase, tissue transglutaminase. It is hypothesized that tissue transglutaminase may be involved in the formation of the protein aggregates that causes Huntington's disease, although it is most likely not required.
Mutations in keratinocyte transglutaminase are implicated in lamellar ichthyosis.
Read more about this topic: Transglutaminase
Famous quotes containing the words role and/or disease:
“All of the assumptions once made about a parent’s role have been undercut by the specialists. The psychiatric specialists, the psychological specialists, the educational specialists, all have mystified child development. They have fostered the idea that understanding children and promoting their intellectual well-being is too complex for mothers and requires the intervention of experts.”
—Elaine Heffner (20th century)
“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)