New genetic mutations causing diabetes
Last reviewed: 23.04.2024
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Diabetes mellitus is a fairly common disease, one might say, a scourge of modern society.
Various methods are used to treat this disease. The diagnosis of " diabetes " annually hears more than a million young people at the age of twenty years and older. After cardiovascular and oncological diseases, diabetes mellitus takes the third position in the number of patients in the world.
Diabetes mellitus is a systemic disease that develops against a background of partial or absolute deficiency of the hormone insulin. As a result, in the body there is a violation of carbohydrate metabolism, in particular, the utilization of glucose by tissues is inhibited. Subsequently, a number of hormonal and metabolic disorders occur, which can lead to the development of kidney disorders, retinal vessels, myocardial infarction and stroke. All this makes diabetes a dangerous disease that requires urgent treatment.
The researchers found three genetic variations that affect the production of insulin. The results of their work are published in the pages of the scientific journal Nature Genetics. This study of scientists was aimed at studying genes that have a significant effect on the secretion of the hormone insulin.
According to the study's lead author, professor of genetics Karen Moke of the School of Medicine at the University of North Carolina, the analysis and study of genetic variations helps to better understand what proportion of the influence genes have on the development of the disease.
This study is the first of its kind, where the method ExoME is used to collect genetic information.
The method of clinico-diagnostic ExoME sequencing allows specialists to diagnose patients if this is not possible with traditional diagnostic methods.
ExoME makes it possible to recognize regions of the genome in which pathogenic mutations occur.
"This method allowed us to survey a large number of people, in particular, more than 8,000 people. We hope that such an analysis will be useful for identifying mutations associated with obesity and the development of cancer, "the researchers say.
A group of scientists led by Professor Moke undertook a detailed study and analysis of a large-scale study of experts from the University of Eastern Finland.
Experts analyzed medical records and genetic data of 8,229 Finnish men. They set out to find possible genetic variations that could be associated with diabetes mellitus.
Such variations, which provoke failures in the production of insulin, were detected in three genes - TBC1D30, PAM and KANK1. The presence of these genes can create health problems even for absolutely healthy people and also lead to the development of diabetes mellitus.
The team of scientists is not going to stop and plans to conduct further research in order to learn more about how genes are related to diabetes. They hope that their successful work, conducted with the help of the ExoME method, will help in studying the hereditary connections of genetic variations and other diseases.
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