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Scientists led by University of Edinburgh Identify Key Gene in Bowel Diseases

Scientists led by University of Edinburgh Identify Key Gene in Bowel Diseases

Inflammatory Bowel Disease (IBD) involves chronic inflammation of all or part of the digestive tract and primarily includes Crohn's disease and Ulcerative Colitis. IBD affects around 300,000 people in the UK and is currently incurable as the causes of these disorders are unknown.

The gene, known as MDR1, acts as an extractor system for removing toxins in the gut, which can cause damage to intestinal cells. Researchers found that MDR1 function was lower in colonic biopsies in patients with inflamed IBD, than those without inflammation.

The study found that blocking of the MDR1 gene will harm important parts of the cell and will lead to bowel disease. The damage to these vital cell parts can be reversed through targeted drug treatment which gives hope of much more effective therapies in the future.

The researchers demonstrated that mice lacking in MDR1 had faulty mitochondria, which are parts of the cells that are usually referred to as 'batteries' as they are essential in generating energy and to cell health. This dysfunction results in inflammation of the inner lining of the bowel, which is known as colitis, and is a defining feature of IBD.

Scientists were then able to establish the significance of mitochondria further as they were able to link a large number of genes involved in regulating these cell batteries. To protect the mitochondria against toxins, the researchers found that a drug called Mitoquinone can reduce colitis and promote bowel recovery in the mice lacking MDR1.

This study was led by the University of Edinburgh and was carried out with researchers worldwide, including Bristol, the USA and Japan. The findings of this research represents a significant step forward in the understanding of this complicated disease.

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