Researchers Identify Gene Variations That Could Ensure Better Diagnosis of Hereditary Diseases

By: | May 10th, 2023

Did you know that over 99.9 % of DNA is similar to the person sitting next to us? However, the remaining 0.1% of genetic variations decide our eye color or whether we are predisposed to hereditary diseases.

It is very difficult to detect these diseases through genetic sequencing. This is because of the difficulty in determining specific small differences in our DNA that could affect our risk of developing disease. 

Now, the University of Copenhagen’s Department of Biology researchers made an important breakthrough in diagnosing hereditary diseases. 

For addressing this issue, researchers have studied the GCK gene, which codes for the enzyme glucokinase. It is an enzyme that regulates insulin secretion in the pancreas. Genetic mutations in GCK can result in an inherited form of diabetes. However, so far very few gene potential variants and their effects have been identified.

Researchers measured the effect of all of the possible variants of GCK

Ph.D. student Sarah Gersing, the first author of the study, said, “We used yeast cells to measure the activity of over 9000 different GCK variants. In this way, we were able to generate a list of the effects — both of already known variants, but also of variants that patients might carry, but that have not yet been discovered. This provides us with a reference for future GCK diagnostics”. 

He added, “Now, we have measured the effects of almost all variants of GCK, giving us knowledge on which variants that function, and which that do not. The next step is to understand why, and how the same underlying molecular mechanisms can give rise to a wide range of different diseases”,

Nidhi Goyal

Nidhi is a gold medalist Post Graduate in Atmospheric and Oceanic Sciences.

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