2024-07-12 09:45:06
Insulinomas are rare tumors that affect the appearance of beta cells, which are responsible for secreting insulin. They are often diagnosed because they cause excessive insulin production which often leads to hypoglycemia. Every year, four people in every million are diagnosed with insulinomas, and in most cases, they are benign. If they are detected in time and removed with surgery, they have a good prognosis and in one of ten cases there are malignant insulinomas.
Experimental research by the Pompeu Fabra University (UPF) in Barcelona describes the process by which insulinomas are formed.
The research team includes, among others, Mireia Ramos and Lorenzo Pasquali, from the UPF.
According to the study, insulinomas result from a collection of rare but common mutations in the epigenetic profile of pancreatic beta cells. This change in profile causes beta cells to express higher levels of oncogenes, growth and transcription factors, and genes related to insulin production.
These changes varied among the 42 insulinomas analyzed and, for the most part, clustered in regulatory regions of the genome. “The difference of insulinomas is that all of them, whatever the changes they have, end up getting the same epigenetic profile,” added Lorenzo Pasquali, director of the Endocrine Regulatory Genomics Group at UPF, who conducted the study.
This new epigenetic profile causes the beta cells of tumors to lose their inflammatory markers and, unlike healthy beta cells, have a series of active oncogenes, growth and transcription factors and genes related to insulin production, which changes their function.
Apart from insulinomas, pancreatic beta cells are also present in other diseases such as diabetes mellitus. For this reason, “we are particularly interested in understanding how these cells lose control, abnormal expression of the genes that make them work properly and complete the insulin secretion change,” said Pasquali.
Details of insulinoma cells that express insulin (red). (Photo: UPF)
Now, the team is already working to better understand the mechanism by which the excess beta cells occur, which in the future may have therapeutic effects in the treatment of other diseases in which beta cells are altered.
San Raffaele Hospital Science Institute in Milan in Italy, University of Colorado in Boulder (USA), University of Barcelona, Bellvitge Biomedical Research Institute (IDIBELL) in Hospitalet de Llobregat, Parc Taulí Research and Innovation Institute (I3PT) in Sabadell, Barcelona Biomedical Research Center (IRB Barcelona) and Networked Biomedical Research Center for Diabetes and Associated Metabolic Diseases (CIBERDEM), in Spain.
The study is titled “Implications of non-coding regulatory functions in the development of insulinomas.” And it was published in the academic journal Cell Genomics. (Source: Pompeu Fabra University)
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