The diet it is not enough. The reason for high cholesterol resides in a gene, discovered by one i study spanish. Prior to the research, it was known that the lipoprotein receptor, LDLR, was responsible for 80% of cases. But the scholars of the INCLIVA Health Research Institute of the Hospital Clínico of Valencia were able to identify the new “symptoms” potentially responsible for ADH. Which would help to recognize the disease, thus being able to advance the application of adequate medical treatment and reduce the cardiovascular risk.
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High cholesterol, because diet is not enough
The study, led by Felipe Javier Chaves, head of INCLIVA’s Genomics and Diabetes Unit, was recently published in the journal Biomedicine. The doctor and his colleagues studied several genes in a group of 41 patients with high cholesterol. All did not have mutations in other genes known to be responsible for the disease. These potential genes were particularly chosen for their involvement in metabolic pathways related to lipids in general and cholesterol in particular.
The responsible gene
It was possible to identify a mutation in the gene SREBF2 in a patient. And it was found that all relatives who had the same genetic mutation also shared two known cardiovascular risk factors, such as high cholesterol and high glucose levels, with older relatives who had been diagnosed with diabetes.
📰 INCLIVA researchers identify a mutation in the SREBF2 gene as a possible cause of high cholesterol and glucose levels, cardiovascular risk factors
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The results
According to the results of the study, the mutation of the SREBF2 gene increases the transcription of the gene, i.e. its expression in various cell groups, such as liver cells, the cells of the intestine or the adipocytes or fat cells, although to different extents. Not all cell groups increase their gene expression in the same way, although the mutation has produced, to a greater or lesser extent, an increase in blood cholesterol levels.
It also increases sugar
Previous studies had already suggested the possibility that SREBF2 mutations were a cause of hypercholesterolemia. Or that they could even affect already elevated cholesterol levels in patients with LDLR gene mutations. This research, however, has shown that the SREBF2 mutation is capable of causing familial hypercholesterolaemia. Furthermore, the detected mutation also leads to higher levels of glucose and insulin. In fact, some of the relatives of the patient who participated in the study were already diabetics. But others were in levels of prediabetes (high blood sugar, not reaching the range of diabetes as a diagnosis) and none of these people had any genetic alteration that could explain your high blood sugar beyond the SREBF2 gene. In conclusion, the authors suggest that this mutation is able to increase both cholesterol and glucose levels in humans, but further studies are needed to demonstrate a causal relationship between this mutation and familial hypercholesterolemia.
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