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New genetic mutations found to cause diabetes
Medical expert of the article
Last reviewed: 01.07.2025
Diabetes mellitus is a fairly common disease, one might say the scourge of modern society.
Various methods are used to treat this disease. More than a million young people aged twenty and older hear the diagnosis of " diabetes mellitus " every year. After cardiovascular and oncological diseases, diabetes mellitus ranks third in the number of patients in the world.
Diabetes mellitus is a systemic disease that develops against the background of a partial or absolute deficiency of the hormone insulin. As a result, the body experiences a disruption of carbohydrate metabolism, in particular, the utilization of glucose by tissues is inhibited. Subsequently, a number of hormonal and metabolic disorders occur, which can cause the development of kidney disorders, retinal blood vessels, myocardial infarction and stroke. All this makes diabetes a dangerous disease that requires urgent treatment.
Researchers have discovered three genetic variations that affect insulin production. The results of their work are published in the scientific journal Nature Genetics. This research by scientists was aimed at studying genes that have a significant impact on the secretion of the hormone insulin.
According to the study's lead author, professor of genetics Karen Mocke of the University of North Carolina School of Medicine, analyzing and studying genetic variations helps to better understand how much influence genes have on the development of a disease.
This study is the first of its kind to use the ExoME method to collect genetic information.
The clinical diagnostic ExoME sequencing method allows specialists to diagnose patients in cases where this cannot be done using traditional diagnostic methods.
ExoME makes it possible to identify regions of the genome where disease-causing mutations occur.
"This method allowed us to examine 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 conducted a detailed study and analysis of a large-scale study by experts from the University of Eastern Finland.
The researchers analyzed medical records and genetic data from 8,229 Finnish men to find possible genetic variations that could be associated with diabetes.
Such variations, which provoke failures in the body's production of insulin, were found in three genes - TBC1D30, PAM and KANK1. The presence of these genes can create health problems even in absolutely healthy people and also lead to the development of diabetes.
The team of scientists is not going to stop and plans to conduct further research to learn more about how genes are linked to diabetes. They hope that their successful work, conducted using the ExoME method, will help in studying the hereditary links of genetic variations and other diseases.
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