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Mysterious esophagus disease is autoimmune after all
Date:7/29/2014

Achalasia is a rare disease it affects 1 in 100,000 people characterized by a loss of nerve cells in the esophageal wall. While its cause remains unknown, a new study by a team of researchers at KU Leuven in Belgium, the University of Bonn in Germany and other European institutions confirms for the first time that achalasia is autoimmune in origin. The study, published on 6 July in Nature Genetics, is an important step towards unraveling the mysterious disease.

When we swallow, a sphincter in the lower esophagus opens, allowing food to enter the stomach. Nerve cells in the esophageal wall control the opening and closing of this sphincter, but in people with achalasia, these nerve cells gradually disappear. Without these cells, the esophageal sphincter fails to relax, causing food to accumulate in the esophagus. This results in swallowing problems, regurgitation, vomiting, nighttime coughing, chest pain and weight loss.

Because so little is known about achalasia, current treatments are limited to stretching the esophageal sphincter endoscopically with a balloon or surgically cutting the sphincter. But while these treatments can help alleviate the disease's symptoms, they do not address its cause.

Researchers have long suspected that an autoimmune response lies at the root of the disease, but an explanation for why the immune system of people with achalasia responds as it does remains elusive.

One possible explanation is that esophageal nerve cells are targeted by the body's defenses due to a miscued immune response to an earlier viral infection the immune system mistakes the nerve cells for the virus and attacks them.

Based on their results, the researchers in this study now think that genetics may play a more important role than previously thought in determining who is at risk for achalasia. Because the disease is so rare, cohorts in previous genetic studies have been too small (less than 300 patients) to d
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Contact: Guy Boeckxstaens
guy.boeckxstaens@med.kuleuven.be
32-473-678-009
KU Leuven
Source:Eurekalert

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