Newly-identified gene could cure bowel disorders

16 May 2017

Scientists have identified a key gene which could be the answer to curing bowel disorders, including Crohn’s Disease.

Millions of people worldwide suffer from debilitating bowel conditions, such as Crohn’s, Inflammatory Bowel Disease (IBD) and Ulcerative Colitis, for which there is currently no cure.

However, a new investigation, led by the University of Edinburgh, discovered a gene known as MDR1, which forms part of a toxin extractor system and removes damaging substances from cells in the intestine.

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Researchers found that those who had inflamed IBD had a lower MDR1 function than those without. Using mice, they then discovered that the rodents without MDR1 had faulty mitochondria, parts of the cell which are vital to maintaining cell health. The mitochondrial dysfunction resulted in inflammation of the bowel’s inner lining – a key identifier of IBD.

Experts then found that by using a drug called Mitoquinone, the mitochondria can be protected against toxins, thereby reducing colitis and aiding bowel recovery in the mice which lacked MDR1.

Dr Gwo-Tzer Ho, the study’s lead author and honorary consultant gastroenterologist at the University of Edinburgh's MRC Centre for Inflammation Research, explained: “IBD has a serious impact on quality of life, with 6,000 new cases diagnosed per year in the U.K.

“We have shown that MDR1 and mitochondrial function are important jigsaw pieces in the complex causes of IBD.

“Our studies highlight the importance of shielding the mitochondria from damage. This will open new approaches to drug targets that focus on the mitochondria to better design treatments for patients.”

Experts analysed genetic date from 90,000 subjects, 40,000 of whom suffered from IBD, for the investigation.

The study was funded by the Medical Research Council and Crohn's and Colitis UK and was conducted by researchers at the University of Edinburgh, the University of Bristol and in the USA and Japan.

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