We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us

Download Mobile App




Mutation Triggers Crohn's Disease

By Biotechdaily staff writers
Posted on 29 Oct 2003
Researchers have identified a mutation in a gene that may be responsible for the development of Crohn's disease, a chronic autoimmune digestive disorder.

Investigators at the Temple University School of Medicine (Philadelphia, PA, USA) identified a single point mutation at nucleotide 1586 that translated Ser511 to Asn511. More...
They expressed these domains in Escherichia coli and found no differences in the rate of cleavage by purified kallikrein in the absence of N-glycosylation. However, when these domains were expressed in Chinese hamster ovary (CHO) cells, which are capable of glycosylation, an increased rate of cleavage of high molecular weight kininogen was observed. These findings were published in the October 15, 2003, issue of Blood.

Kininogen comprises a group of inactive plasma proteins that when proteolytically cleaved by kallikrein, a plasma protein of 110 kD molecular weight normally existing in plasma in a 1:1 complex with prekallikrein, give rise to kinins (bradykinin and kallidin). High molecular weight kininogen is split by plasma kallikrein to produce bradykinin. The complex is a cofactor in the activation of coagulation factor xii. The product of this reaction, xiia, in turn activates prekallikrein to kallikrein.

"Finding this mutation is important because we are now in a position to look for the same genetic mutations in humans, the presence of which would confirm that the protein kininogen plays an important role in the origin and development of Crohn's. We could then direct therapy toward modifying the effects of this protein,” explained senior author Dr. Robert Colman, professor of medicine at Temple University School of Medicine.




Related Links:
Temple University

Gold Member
Quantitative POC Immunoassay Analyzer
EASY READER+
New
Gold Member
Clinical Chemistry Assay
Sorbitol Dehydrogenase (SDH)
New
Automated Clinical Chemistry Analyzer
Envoy 500+
New
Electrolyte Analyzer
CBS-4000 (CBS-400)
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Clinical Chemistry

view channel
Photo courtesy of Adobe Stock

Urine-Based Multi-Cancer Screening Test Receives FDA Breakthrough Device Designation

Early detection across multiple cancers remains a major unmet need in population screening. Non-invasive approaches that can be delivered at scale may broaden access and shift diagnoses to earlier stages.... Read more
Copyright © 2000-2026 Globetech Media. All rights reserved.