Product name
New diagnostic biomarkers and therapeutic approaches for irritable bowel syndrome -IBS from EMBLSummary
Mutation analysis and functional studies show association with subgroup IBS-DOrganization name
EMBLEM - the commercial arm of the European Molecular Biology LaboratoryProfile
Irritable Bowel Syndrome (IBS) is one of the most common functional gastrointestinal disorders affecting up to 20% of the population, in which patients suffer from abdominal pain or discomfort associated with disordered defecation or change in bowel habit. Notably, women are twice as likely to be affected as men. IBS patients can be divided into three different subgroups depending on their predominant bowel habit: patients with diarrhoea (IBS-D), patients with constipation (IBS-C) and patients that suffer from mixed bowel habits (IBS-M). IBS is a complex disorder in which both genetic and environmental factors contribute. Although its pathogenesis remains poorly understood, several studies show that abnormal serotonin (5- hydroxytryptamin or 5-HT) signalling seems to play an important role in the etiology of the symptoms seen in IBS patients. Serotonin type 3 receptors have been identified on sensory neurons of the gut and 5-HT3 antagonists are effective therapeutic agents in the treatment of IBS-D patients.
Technology
As cis-regulatory variants can play a role in the etiology of complex conditions by affecting efficiency of translation, we investigated the 5´ and 3´ untranslated region (UTR) of the 5-HT3A and 5-HT3E subunit genes of the Serotonin type 3 receptor (5- HT3).
Mutation analysis was carried out in 200 patients with irritable bowel syndrome and 100 healthy controls. We found the HTR3A 5´UTR variant -42C>T and the novel HTR3E 3´UTR variant *76G>A associated with the IBS-D diarrhea subtype.
Functional studies showed that both variants lead to significant up-regulation of subunit expression. In HEK293 cells, the HTR3A variant -42C>T shows a higher density of 5-HT3A receptors at the cell surface compared to the wild-type control. The HTR3E variant *76G>A affects the microRNA binding site hsa-miR-510 and leads to a higher luciferase reporter gene expression. Both HTR3E and the miRNA co-localize in enterocytes of the mucosal cell layer of the gut epithelium.
Commercial Opportunity
Development of new diagnostics and drugs against Irritable Bowel Syndrome.
Key Facts
- fast and reliable detection of IBS subtypes
- subtype-specific therapeutic approaches
- new effective biological compounds showing decreased side-effects
Developmental Status
Preclinical development
US applications has been filed.
Contact
EMBLEM
Dr. Martin Raditsch
Raditsch(at)embl-em.de
About EMBLEM
EMBL Enterprise Management Technology Transfer GmbH (EMBLEM) is an affiliate and the commercial arm of the European Molecular Biology Laboratory (EMBL).
EMBLEM, established in 1999 identifies, protects and commercialises the intellectual property developed in the EMBL-world, from EMBL-alumni and from third parties. EMBLEM facilitates and accelerates the transfer of innovative technology from basic research to industry by working closely with industrial partners spanning the biotech, ITC and mechanical/electrical engineering markets to develop new diagnostics, drugs, therapies and machines and devices.
Description File
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