Genetic defects linked to inflammatory disorder

London, Nov 16 (ANI): British scientists have identified certain genetic mutations that contribute to inflammatory disorder, ulcerative colitis.

Four genes namely LAMB1, CDH1, CDH3 and HNF4A play vital roles in keeping the intestine lining healthy.

The study showed that defects in these four genes leads to leaky gut thereby causing the inflammatory disease.

Ulcerative colitis is a life-long, incurable condition, which can cause diarrhoea, fever, abdominal pain and swelling and weight loss.

The gut contains large number of bacteria, which play a key role in the digestive process, and in keeping the gut healthy.

These genes affect the seals at the junctions between the cells of the epithelium.

While comparing the genomes of 4,700 people with the condition, to 8,000 healthy people, the research team found that defects in the epithelium can allow these bacteria to leak into the wall of the intestine, where they can trigger an immune reaction, leading to prolonged inflammation.

Experts believe this is one of the causes of ulcerative colitis.

"We have long suspected that genetic defects in the epithelial barrier are important in ulcerative colitis," BBC News quoted Dr Miles Parkes, Consultant Gastroenterologist at Addenbrooke's Hospital, Cambridge, as saying.

"This large scale genetic study provides the first robust genetic evidence that this is the case," Parkes added.

"This is very significant as most treatments to date are based on damping down immune response," said Professor Chris Mathew, from King's College London, who also worked on the study.

The study appears in journal Nature Genetics. (ANI)