Mysterious Esophagus Disease Is Autoimmune After All Although its cause remains unknown, scientists have confirmed that achalasia—a rare disease characterized by a loss of nerve cells in the esophageal wall—is autoimmune in origin. The study, published July 6 in Nature Genetics, is an important step toward unraveling the mysterious disease. It is the first systematic, genome-wide association ... Research in Brief
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Research in Brief  |   October 01, 2014
Mysterious Esophagus Disease Is Autoimmune After All
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Swallowing, Dysphagia & Feeding Disorders / Special Populations / Genetic & Congenital Disorders / Research in Brief
Research in Brief   |   October 01, 2014
Mysterious Esophagus Disease Is Autoimmune After All
The ASHA Leader, October 2014, Vol. 19, 14. doi:10.1044/leader.RIB2.19102014.14
The ASHA Leader, October 2014, Vol. 19, 14. doi:10.1044/leader.RIB2.19102014.14
Although its cause remains unknown, scientists have confirmed that achalasia—a rare disease characterized by a loss of nerve cells in the esophageal wall—is autoimmune in origin. The study, published July 6 in Nature Genetics, is an important step toward unraveling the mysterious disease. It is the first systematic, genome-wide association study on achalasia and involves the largest cohort ever analyzed for the disease.
Nerve cells in the esophageal wall control the opening and closing of the lower esophagus, but in people with achalasia, these nerve cells gradually disappear—causing food to accumulate in the esophagus. This results in swallowing problems, regurgitation, vomiting, nighttime coughing, chest pain and weight loss. Achalasia affects one in 100,000 people.
Researchers have long suspected that an autoimmune response lies at the root of the disease, but an explanation remains elusive.
European researchers, led by Johannes Schumacher of the University of Bonn’s Institute of Human Genetics, studied the DNA of 1,506 achalasia patients and 5,832 healthy volunteers from Central and Southern Europe. The researchers genotyped 196,524 tiny differences—called single-nucleotide polymorphisms, or SNPs (pronounced “snips”)—in the immune-related DNA of people with achalasia, and compared the results with the DNA of the healthy volunteers; 33 SNPs were found to be associated with achalasia.
Surprisingly, all 33 were located in the “major histocompatibility complex” region of chromosome 6—the most gene-dense region in the human genome. This region is known to be associated with other autoimmune disorders, including multiple sclerosis, type 1 diabetes and lupus. This evidence was enough for the researchers to confirm that achalasia is an autoimmune disease.
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October 2014
Volume 19, Issue 10