Celiac.com 10/07/2009 - A team of Maltese researchers, led by genetics specialist Christian Scerri, has discovered that a previously unassociated gene contributes to the development of celiac disease. The association of the gene, a variant of a gene called CD59, is the result of three years of research at a University of Malta lab.
The research team made the discovery after examining the DNA of six people who suffered from gluten intolerance, together with 9 close relatives.
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Armed with about $35,000 in research funds provided by the Malta Council for Science and Technology, the research team set out to examine the DNA of each family member along with their different genes.
"If you have a grandmother, a mother and a son who all suffer from a particular disease, we will look for the part of DNA that is common in all three," Scerri said.
Once the researchers isolated the matching parts of the DNA, the researchers begging combing through all the different genes in that section of the DNA.
Several prior studies have shown that only people with a certain type of the molecule human leukocyte antigen, called HLA-DQ2/DQ8, were pre-disposed to celiac disease. HLA-DQ2/DQ8 is found in about 30 per cent of the worldwide population.
Although HLA-DQ2/DQ8 does not cause gluten intolerance on its own, it can combine with a number of genes to cause celiac disease. According to Dr. Scerri, the results showed that "all those patients who suffered from celiac disease had both HLA-DQ2/DQ8 and a variant of CD59."
The study also confirmed that people who had HLA-DQ2/DQ8 or CD59 alone did not suffer from celiac disease, providing strong evidence that the two combine to cause gluten intolerance.
The gene variant was also rare in Malta and was not found among another 99 families who have members with celiac disease. "This seems to be the only family in Malta which has this gene," Dr Scerri says of the 17-strong family that was tested.
Though the gene is quite rare, the research is crucial, as it will likely lead to further study to discover how specific genes bring about particular conditions.
Dr Scerri hopes to have additional staff in place to begin research by the end of next year when a $7 million restructuring of the University's molecular genetics lab would be finalized.
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