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:
“His role was as the gentle teacher, the logical, compassionate, caring and articulate teacher, who inspired you so that you wanted to please him more than life itself.”
—Carol Lawrence, U.S. singer, star of West Side Story. Conversations About Bernstein, p. 172, ed. William Westbrook Burton, Oxford University Press (1995)
“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)