A mutation in the ‘SREBF2’ gene is possibly the cause of high cholesterol and glucose levels, according to a study in people with autosomal dominant hypercholesterolemia.
Researchers from the Incliva Health Research Institute, of the Hospital Clínico de València, have identified a mutation in the gene SREBF2 as a possible cause of high cholesterol and glucose levels.
Both high cholesterol and glucose levels are cardiovascular risk factors. Autosomal dominant hypercholesterolemia (ADH) is characterized by very high levels of total cholesterol and LDL cholesterol. It is a disease of genetic origin, but the responsible gene is only known in 80% of patients. The Gen LDLR is the cause of the disease in most patients and there are other known genes such as, for example, APOB y PCSK9which are responsible for approximately 1% of cases.
The main objective of the research was the identification of new genes that could be responsible for ADH, since it would help to detect many patients with this disease and advance in them both the application of adequate treatment and the adoption of healthy lifestyle habits. reducing the risk of developing cardiovascular disease.
In patients without identified genetic mutation
Research results A very rare Variant in SREBF2, a posible cause of Hyperchoelsterolemia and Increased Glycemic levelsdirected by Felipe Javier Chaves – head of the Incliva Genomics and Diabetes Unit and researcher at CiberDEM (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas), of the Carlos III Health Institute, have recently been published in the journal Biomedicines.
In the research, several candidate genes were studied in a group of ADH patients who did not have any mutations in the genes known to be responsible for the disease. These candidate genes were chosen because they are involved in metabolic pathways related to lipids and cholesterol.
A mutation was identified in the gene SREBF2 in a patient and this mutation was studied in his family, observing that those relatives with the mutation had not only slightly elevated cholesterol levels, but also elevated glucose levels, those being older being diabetic.
The mutation is located in the promoter region of the gene, which is involved in its regulation. As the mutation was located in the promoter region, it was studied whether the mutation could increase gene expression or not.
expression level
For this, studies were carried out with luciferase that allow us to know the level of expression of the gene and the study was carried out in different cell types important for the regulation of blood cholesterol. Pere Iñigo