By analysing DNA, researchers have discovered a rare disease, dating back to the 12th century, affecting both heart rate and intestinal movements. The disease, which has been named "Chronic Atrial Intestinal Dysrhythmia" or CAID syndrome is a serious condition caused by a rare genetic mutation.This finding demonstrates that heart and gut rhythmic contractions are closely linked by a single gene in the human body.The researchers have also developed a diagnostic test for the CAID syndrome."This test will identify with certainty the syndrome, which is characterised by the combined presence of various cardiac and intestinal symptoms," said Gregor Andelfinger, pediatric cardiologist and researcher at the Centre Hospitalier Universitaire (CHU) in Sainte-Justine, Canada."The symptoms are severe, and treatments are very aggressive and invasive," added Philippe Chetaille, pediatric cardiologist at CHU de Quebec.At cardiac level, patients suffer primarily from a slow heart rate, a condition which will require the implantation of a pacemaker for half of them, as early as in their childhood.At digestive level, a chronic intestinal pseudo-obstruction will often force patients to feed exclusively intravenously.
Furthermore, many of them will also have to undergo bowel surgery.
By analysing the DNA of patients of French-Canadian origin and a patient of Scandinavian origin showing both the cardiac and the gastro-intestinal condition, the researchers were able to identify a mutation in the gene SGOL1 that is common to all patients showing both profiles.The genetic mutation involved dated back to 12th century Vikings, the researcher noted.Vikings were seafarers who raided and traded from their Scandinavian homeland across wide areas of northern and central Europe, as well as European Russia, during the late 8th to 12th century.The findings appeared in the journal Nature Genetics.