Gene mutation in Crohn’s disease stops body-bug chat
A gene commonly mutated in Crohn’s disease sufferers is responsible for allowing the body’s immune system to ‘chat’ to microbes in the gut. Researchers at Hammersmith Hospitals NHS Trust and Imperial College London who have uncovered the role of this gene say that it will now be possible to develop better tests for this debilitating disease, and will help researchers to uncover the genetic basis of Crohn’s and similar inflammatory bowel diseases.
Writing in the journal The Lancet tomorrow (21 May), the Hammersmith researchers describe the effect that mutations in the gene, known as NOD2/CARD15, has on the release of immune system molecules in the gut. Normally, the gene produces a protein that is involved in recognising bacteria in the gut. This recognition prevents the initiation of an early immune response, which subsequently leads to the lining of the gut becoming inflamed. In around a quarter of Crohn’s disease sufferers, mutations in the NOD2/CARD15 gene prevent this communication from taking place.
“The NOD2/CARD15 system was the first genetic defect found to be associated with Crohns disease, but until now we haven’t been able to understand exactly why this caused the disease,” comments study leader Dr David van Heel, gastroenterologist at Hammersmith Hospital and Imperial College London. “Our studies suggest that this defect does not allow the immune system to work properly in the very earliest stages of mounting an immune response."
“The body normally senses microbes present in the gut that are essential in maintaining normal gut function, and there is regular cross-talk between the gut lining and the microbes that they contain. This functional defect probably disrupts this natural process.”
“We think that this new finding provides a basis for new tests for Crohn’s disease, with implications for both research and future treatments,” adds Dr van Heel, gastroenterologist at Hammersmith Hospital and Imperial College, who led the study.
Crohns disease affects between 30,000 and 60,000 people in the UK, with between 3,000 and 6,000 new cases diagnosed each year. The number of people with Crohn’s disease has been rising steadily, particularly among young people.
It can affect anywhere from the mouth to the anus but most commonly affects the small intestine and/or colon. It causes inflammation, deep ulcers and scarring to the wall of the intestine and often occurs in patches. The main symptoms are pain in the abdomen, urgent diarrhoea, general tiredness and loss of weight. Crohn’s is sometimes associated with other inflammatory conditions affecting the joints, skin and eyes.
"These results, although some way from providing clinical treatment, are extremely encouraging," comments Professor Subrata Ghosh, medical advisor to NACC - the National Association for Colitis and Crohns Disease, and one of the co-authors of the study. "In addition to helping patients with this faulty gene, we may find that patients without this particular genetic defect have similar disruptions to other parts of the NOD2/CARD15 system. Our hope is that this will lead to the identification of further genetic defects, and ultimately to new treatment strategies."
Simon Wilde | alfa
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
Physicists of the University of Würzburg have made an astonishing discovery in a specific type of topological insulators. The effect is due to the structure of the materials used. The researchers have now published their work in the journal Science.
Topological insulators are currently the hot topic in physics according to the newspaper Neue Zürcher Zeitung. Only a few weeks ago, their importance was...
In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.
Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...
Mapping the interaction of a single atom with a single photon may inform design of quantum devices
Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...