Researchers from the Incliva Health Research Institute, Hospital Clínico de Valencia, A mutation in the Srebf2 gene has been identified as a possible cause of high cholesterol and glucose levels.Cardiovascular risk factors.
This discovery opens the door for the advancement of adequate treatment and the adoption of healthy lifestyle habits in many patients.As explained in a statement by the scientific entity, in which it has been said that the results of the research have been published in the journal Biomedicine.
Autosomal dominant hypercholesterolemia (ADH), characterized by very high levels of total cholesterol and LDL cholesterol, It is a disease of genetic origin. But the gene responsible is only known in 80 percent of patients.
The LDLR gene is the cause of the disease in most patients and there are other known genes, such as APOB and PCSK9, They account for about 1% of cases.
The aim of the research was to identify the new gene responsible for ADH. As this will help in the detection of many patients with this disease and advance them in both the application of adequate treatment Reducing the risk of developing heart disease, in the form of adopting healthy lifestyle habits.
The research is directed by Dr Felipe Javier Chaves -Head of the Incliva Genomics and Diabetes Unit and researcher at the CyberDEM (Center for Network Biomedical Research on Diabetes and Associated Metabolic Diseases) of the Carlos III Institute of Health.
In the research, several candidate genes were studied in a group of ADH patients who did not have any mutations in their genes 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 in the Srebf2 gene was identified in one patient and this mutation was studied in his family, noting that those relatives with the mutation not only had slightly increased cholesterol levels, but also raised glucose levelsDiabetes in older people.
The mutation is located in the promoter region of the gene.that is involved in its regulation, according to the sources, who indicate that they studied whether the mutation could increase gene expression.
For this, studies were carried out with luciferase, which allows us to know the level of gene expression, and in various important cell types. For regulation of blood cholesterol.
He participated in the investigation on behalf of the Inclava.Dr. Ana-Bárbara García García from the Genomics and Diabetes Unit – attached to Cyberdem – and Carmen Evora, and Dr. Jose T. from the Research Group on Cardiometabolic Risk and Diabetes and Cyberdem researchers. Real and Sergio Martinez Hervas.
Santiago Vernia and Marta Casado – a researcher at Ciberehd (Centro de Investigación Biomédica en Enfermedades Hepáticas y Digestivas) – also participated on behalf of CSIC’s Biomedicine Institute of Valencia. Carlos III Institute of Health, and Inés Pulido and Julian Carretero, from the Department of Physiology of the University of Valencia.
The research has received funding from the Carlos III Institute of Health, the Ministry of Science and Innovation and the Health Research Fund of the Generalitat Valenciana.
