With the alarming increase in the incidence of type 2 diabetes, science is turning to genetics to better understand the processes underlying this chronic disease. A missing gene has been isolated, and it is believed that this gene leads to pancreatic dysfunction that causes diabetes.
The International Diabetes Federation (IDF) predicts that by 2045, 12.2% of the world’s population will have diabetes. Type 2 diabetes (T2D) is the more common disease, accounting for about 90% of all cases of diabetes. In healthy people, pancreatic islet cells secrete insulin, especially pancreatic beta cells. In people with type 2 diabetes, cells do not secrete enough insulin, and this often combined with insulin resistance leads to chronic hyperglycemia or hyperglycemia.
While previous studies have identified some of the genes responsible for T2D, most of them have had relatively small sample sizes and a reasonable range to consider the conclusions of the studies to be accurate and reliable. lacked sex. At the same time, genome-wide association studies revealing genes associated with specific diseases have identified hundreds of gene signals associated with T2D, specifically affecting the ability of β cells to secrete insulin.
Researchers at Lund University used RNA sequencing to study pancreatic islet cells from a large group of type 2 diabetic and non-diabetic patients. This process is the process that determines which genes are switched off in the cell, how much DNA is copied into RNA molecules (transcription). ), and when the gene is activated or switched off.
The researchers found 395 differentially expressed genes (DEGs) in pancreatic islet cells from participants with type 2 diabetes. A gene is said to be “differentially expressed” if the observable difference in expression levels between two experimental conditions is statistically significant.
Of the 395 degrees found, only 94 were previously known. DEG was tested to see if people were predisposed to T2D.
Overexpression of one specific gene, PAX5, was strongly associated with impaired insulin secretion by beta cells. PAX5 was previously associated with leukemia, but until now there was no known link between this gene and diabetes.
“One of the strengths of our new study is that we have discovered many new genes that are differentially expressed in people with type 2 diabetes, as well as validating already known genes,” said a co-investigator. Professor Charlotte Ling said. -Lead author of the study. “We were also able to identify genes that proved to be very strongly associated with impaired insulin secretion.”
Now that PAX5 has been identified as a potential cause of T2D, further studies will determine whether CRISPR/Cas 9 gene editing technology can be used to correct the offending gene.
“Our long-term goal is to control PAX5 activity. [CRISPR] Genetic scissors and methods restore PAX5 levels in people with type 2 diabetes,” said Ling.
This research Journal of Clinical Investigation.
Source: Lund University via EurekAlert!
