as he cholesterol In form of high blood sugar There are known cardiovascular risk factors among many others. Maintaining its levels in an adequate range, without excess or deficiency, is one of the main objectives of prevention at the primary care level. However, this is not always an easy task.
On many occasions there are genetic factors that cannot be modified by diet or lifestyle, as is the case with the well-known familial hypercholesterolemia, where levels of total cholesterol and ldl cholesterol They leave for no apparent reason. Until now, the genes responsible for only 80% of cases were known, but a new work of Spanish origin has led to the discovery of a new mutation: the SREBF2 gene.
The disease, known as ‘autosomal dominant hypercholesterolemia’ or ADH, is a disease of genetic origin, as reported by EL ESPAÑOL. It is known that the LDLR gene is the cause in most patients, around 80% of cases, although there are other genes known as APOB and PCSK9, which account for around 1%.
In this new study, carried out by researchers from the INCLIVA Health Research Institute of the Hospital Clínico de Valencia, the aim was to identify new genes potentially responsible for ADH, which would help to detect many other patients, thus Will be able to proceed with the application. Adequate medical treatment and healthy lifestyle habits as per the disease, thus reducing the cardiovascular risk in the long term.
The study, directed by Felipe Javier Chaves, head of the INCLIVA Genomics and Diabetes Unit and researcher at the Carlos III Health Institute’s Center for Biomedical Research in Diabetes and Associated Metabolic Diseases Network (CIBERDEM), has recently been published in the journal Biomedicine.
Chaves and his colleagues studied several genes as potential candidates in a group of 41 ADH patients who did not have any mutations in other genes responsible for the disease. These potential genes were specifically selected for their involvement in metabolic pathways related to lipids, and cholesterol in particular.
It was possible to identify a mutation in the SREBF2 gene in one patient, so the same mutation was studied in his family. Thus, it was found that all relatives who had the same genetic mutation shared two known cardiovascular risk factors, such as high cholesterol and high glucose levels, with older relatives diagnosed with diabetes.
This mutation is found in the promoter region of a gene involved in its regulation, so it was studied whether this mutation could enhance gene expression.
According to their findings, SREBF2 gene mutation enhances the gene’s transcription, that is, it increases its expression in various cell groups, such as liver cells, intestinal cells, or adipocytes or fat cells, although to varying degrees.
Not all cell groups increased their gene expression in the same way, although the mutation produced an increase in blood cholesterol levels to a greater or lesser extent.
it also increases sugar
Previous studies had already suggested the possibility that SREBF2 mutations were the cause of hypercholesterolemia or that they could influence already high cholesterol levels in patients with LDLR gene mutations. This research has shown that the SREBF2 mutation, by itself, is capable of causing familial hypercholesterolemia.
Furthermore, the detected mutation also leads to higher glucose and insulin levels, suggesting that it also has a role in modulating glucose metabolism. Some relatives of patients who participated in the study were already diagnosed with diabetes, but others were at prediabetes level (high blood sugar levels, without reaching the threshold of diabetes as a diagnosis) and none of these individuals had any other There wasn’t a genetic change that could explain his high blood sugar beyond the SREBF2 gene.
In conclusion, the authors suggest that this mutation is capable of increasing both cholesterol and glucose levels in humans, but that further studies will be necessary to demonstrate a causal relationship between this mutation and familial hypercholesterolemia.