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First evidence for genetic cause of Barrett’s oesophagus

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 First evidence for genetic cause of Barrett’s oesophagus

A team of researchers led by Professor Janusz Jankowski of the Blizard Institute of Cell and Molecular Science at Queen Mary, University of London (UK), made new discoveries about Barrett’s esophagus. The study led by researchers uncovers information about the genetic cause of Barrett’s esophagus. The discovery made by researchers at the University of London is extremely valuable because so far the genetic cause of Barrett’s esophagus has not been much investigated. Moreover, the discovery may lead to the development of screening tests for those likely to develop the disease. Barrett’s esophagus is considered a premalignant condition that may progress to esophageal adenocarcinoma. Histologically, Barrett’s esophagus means intestinal metaplasia ofesophageal epithelium. In other words, the esophagus from intestinal metaplasia islands appear.

Barrett's oesophagus

Barrett’s oesophagus

Causes of Barrett’s esophagus are not fully known. Barrett’s esophagus is most commonly associated with esophageal reflux disease. The more severe are the reflux symptoms, the risk of Barrett’s esophagus is greater. It should be noted that there are situations when Barrett esophagus is congenital. Hypothesis of a genetic cause has been taken into account because not all patients with severe esophagitis develop Barrett’s esophagus.

Barrett’s esophagus symptoms are similar to those given by esophageal reflux disease. In other words, patients have heartburn, that is burning sensation in the chest. It can occur also acid regurgitation  or other less common symptoms such as salivation, dysphagia (difficulty swallowing), odynophagia (painful swallowing), weight loss, anemia and others. Usually patients with such symptoms have incompetent lower esophageal sphincter, which causes stomach acid content into the esophagus. Esophageal epithelium is attacked by gastric acidity and thereby burning, ie heartburn.
The team led by Professor Janusz Jankowski analyzed the genomes of 1,800 patients with Barrett’s esophagus to find a genetic component to this disease. They investigated 660,000 genetic variations and found variations in the sequence variations of single nucleotides (which make up DNA ) in two chromosomes: 6p21 and 16q24. To ensure that the two SNPs (single nucleotide polymorphisms) are the those implied in Barrett’s esophagus, they verified the finding in approximately 4500 patients.
Professor Jankowski said this is the first time that a study shows a genetic link to Barrett’s esophagus. He added that with this discovery reflux disease patients can make screening tests to see if they are at risk of developing Barrett’s esophagus. 30% of the Western population has reflux disease and 10-20% of them develop  Barrett’s esophagus, Professor Jankowski said. He also has completed the discovery of a genetic cause can be the basis for targeted therapies in the treatment of Barrett’s esophagus.