Friday, February 3, 2023

Gene mutation may increase cholesterol and glucose

Having high cholesterol and glucose in the blood increases the chances of developing heart diseases, so it is necessary to control their levels. Knowing the risk factors that contribute to hypercholesterolemia helps prevent the condition, and Spanish scientists from CIBERDEM At the INCLIVA Health Research Institute of the Valencia Clinical Hospital, has identified a mutation in the SREBF2 gene as possible Causes of high cholesterol and glucose levels,

Research lead by Dr. 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 Instituto de Salud Carlos III – and has been published in biomedicine, Its results could help establish the most indicated hypercholesterolemia treatments and encourage patients to adopt a healthier diet, according to the scientific entity in a statement.

Autosomal dominant hypercholesterolemia (ADH) It is a disease of genetic origin characterized by very high levels of total cholesterol and LDL cholesterol, but the gene responsible is only known in 80% of patients. In most of those affected, the cause of the disease is General LDLRAnd there are other known genes, such as APOB and PCSK9, that account for about 1% of cases.

Early detection of hypercholesterolemia of genetic origin

The aim of the researchers was to identify the new gene that may be responsible for ADH, as this would facilitate its diagnosis in many patients who could adopt a healthier lifestyle and receive treatment sooner, thus May reduce the risk of developing heart malformations.

Family members of a patient with the SREBF2 gene mutation had high cholesterol and glucose levels, and older people were diabetic.

Several candidate genes were evaluated in a cohort of ADH patients who did not have any mutations in genes known to be responsible for the disease. These candidate genes were selected on the basis of their interference in metabolic pathways related to lipid and cholesterol.

A mutation in the SREBF2 gene was found in one patient who was studied in his family, and it showed that not only did relatives of the patient with the mutation have slightly elevated cholesterol levels, but their Glucose level was also high And the older people were diabetic.

The identified mutation is located in the gene’s promoter region, which is involved in its regulation, according to the sources, who indicated that it was studied whether the mutation could enhance gene expression. For this, studies were carried out with luciferase, which allows us to know the level of expression of genes, and in different types of cells important for the regulation of blood cholesterol.

Participating in the research on behalf of INCLIVA are doctors Ana-Barbara García García—affiliated with CyberDEM—and Carmen Evora from the Genomics and Diabetes Unit; and Dr. Jose T. Real and Sergio Martinez Hervas, from the Research Group on Cardiometabolic Risk and Diabetes and CIBERDEM researchers.

Santiago Vernia and Marta Casado — a CIBEREHD researcher (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas), Instituto de Salud Carlos III–; and Inés Pulido and Julian Carretero, from the Department of Physiology of the University of Valencia.

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