Genetic alterations discovered in the intestinal fat of Crohn’s patients, a finding that could revolutionize the treatment of the disease

This discovery is essential since it could prevent these patients from having to undergo surgery and undergo a resection (cutting of the damaged part of the intestine), as occurs in 50% of diagnosed cases

0.4% of the population in Spain (about 300,000 people) suffers from Crohn’s disease, according to the Confederation of Associations of Crohn’s and Ulcerative Colitis Patients of Spain (ACCU). Every year 3,500 cases are diagnosed. It may seem like an unrepresentative percentage, but the consequences for the health of these patients are enormous: it is a chronic disease; In many cases, it completely limits the life of those who suffer from it and 50% must undergo surgery in the first 10 years of receiving the diagnosis to undergo an intestinal resection, a very aggressive surgical intervention that involves removing the damaged piece of intestine. . On the other hand, it is one of the main causes of school absenteeism (an average of 3 months) and depression among the adolescent population.

Crohn’s is part of the so-called inflammatory bowel diseases (like ulcerative colitis). It causes severe abdominal pain, diarrhea, fatigue, nausea, bleeding, etc., which also ends up impacting the emotional health of those who suffer from it.

The study of this disease is therefore essential to contribute to improving the quality of life of these people. In this sense, the Inflammatory Bowel Diseases Research Group (IBODI) of the IISPV, the Joan XXIII University Hospital of Tarragona and the URV, has led research that has made a revolutionary discovery possible: it has identified, for the first time, the genes that are altered in the stem cells of the fat or adipose tissue that borders the damaged intestine of these patients. This alteration causes the natural functions of these cells to be disabled, thus weakening the intestine and promoting inflammation. Adipose tissue therefore has a key function for the good health of this organ, since it protects it from adverse conditions such as those described previously.

Specifically, the IBODI research group, led by Dr. Carolina Serena, has identified 2 altered genes that play an important role in Crohn’s disease: MAB21L2 and CACNA1H. The MAB21L2 gene is directly associated with patients who suffer from the disease (it is more active in their adipose tissue), and CACNA1H is more linked to patients who had previously suffered flares, but who have managed to stabilize and not have more relapses (they have it in a state of remission). This finding has been made in collaboration with the High Content Genomics and Bioinformatics Unit of the Germans Trias i Pujol Institute, the Colorectal Surgery Unit of the Valle Hebron Hospital in Barcelona and the Diabetes and Associated Metabolic Diseases Research Group (DIAMET) of the IISPV.

Another of the significant discoveries of this IISPV study refers to these latter patients: it has been found that the stem cells of their adipose tissue retain the memory of inflammation. In this sense, Dr. Carolina Serena explains: “If we can better understand how adipose tissue stem cells are affected by inflammation and how they maintain this inflammatory memory, we could develop more effective therapies that not only treat the symptoms, but “They also stop the progression of the disease and improve the quality of life of patients.”

Cutting-edge technology

For this study, cutting-edge technologies in the field of research have been used, such as so-called omics, thanks to which it has been possible to obtain a huge volume of information with very precise data. These advanced tools make it possible to study diseases with very careful results with samples of patients that are not too large: for this research, for example, 30 people (healthy and with the disease) have been evaluated.

Bibliographic reference: Article: D. Monfort-Ferré, A. Boronat-Toscano, J.F. Sanchez-Herrero, A. Caro A, M. Menacho, I. Vañó-Segarra, M. Martí, B. Espina, R. Pluvinet, L. Cabrinety, C. Abadía, M. Ejarque, C. Nuñez-Roa, E .Maymo-Masip, L. Sumoy, J. Vendrell, S. Fernandez-Veledo, C. Serena (AC). Genome-wide DNA methylome and transcriptome profiling reveals key genes involved in dysregulation of adipose-stem cells in Crohn’s disease. Journal of Crohn’s and Colitis. https://doi.org/10.1093/ecco-jcc/jjae072.

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