Researchers at the Mucosal Immunology and Biology Research Center at MassGeneral Hospital for Children (MGHfC) have discovered novel genes and pathways related to early stages in the development of celiac disease and the ongoing inflammation and comorbidities associated with the condition. The findings, published in PLOS One, include analyses of RNA sequences in duodenal biopsies from individuals with and without celiac disease and are consistent with many previously described pathways in the development of celiac disease.
In collaboration with Regeneron Pharmaceuticals, Inc. – a biopharmaceutical company based in Tarrytown, New York – researchers performed whole-transcriptome shotgun sequencing of 12 patients with active celiac disease, 15 celiac patients in remission with no intestinal damage, and 15 individuals without celiac disease. By analyzing participants’ transcriptome – the total sum of transcribed RNA sequences – researchers discovered which genes were expressed and which genes were not expressed to determine genetic signatures linked to celiac disease.
“We know that celiac disease is a multifactorial disease with about 57 genes associated with this autoimmune condition. By performing RNA sequencing, we have uncovered additional genetic ‘signatures’ and moved closer to identifying targets for future therapeutic agents – in celiac disease and possibly other autoimmune conditions,” says Maureen Leonard, MD, MMSc, clinical director of the Center for Celiac Research and Treatment at MGHfC, an instructor in Pediatrics at Harvard Medical School and first author of the study.
Read more at Massachusetts General Hospital
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