Researchers identify gene variations that could revolutionize hereditary diseases

Hereditary diagnosis about to become more accurate
Abdul-Rahman Oladimeji Bello
Abstract hereditary disease
Abstract hereditary disease

koto_feja/iStock 

Did you know that over 99.9 percent of our DNA is identical? But a tiny 0.1 percent of genetic variations can lead to inherited diseases. Unfortunately, detecting these diseases through genetic sequencing can be pretty complicated. It's tough to determine if certain small differences in our DNA increase the risk of contracting a disease. 

In a groundbreaking study, scientists at the University of Copenhagen's Department of Biology have made a significant breakthrough in diagnosing hereditary diseases. Their research findings recently released in the scientific journal Genome Biology shed light on how high-throughput experiments can ensure a better diagnosis of hereditary diseases.

As we previously mentioned, it all starts with our DNA. Everyone possesses a nearly identical genetic makeup, with around 99.9 percent of their DNA code being shared. The remaining 0.1 percent accounts for the inherent differences among people, 

The researchers at the University of Copenhagen have made strides in addressing this issue, specifically for the GCK gene, which encodes glucokinase. Glucokinase is an enzyme that governs insulin secretion in the pancreas. Genetic mutations in GCK can lead to an inherited form of diabetes, but until now, only a tiny percentage of the gene's potential variants and their effects have been identified.

The team evaluated the impact of every possible variant of GCK by analyzing over 9000 distinct GCK variations using yeast cells. This comprehensive high-throughput experiment allowed the researchers to compile a detailed list of effects, including those of previously identified variants and unidentified ones that patients may carry. Thus, serving as a reference for future GCK diagnoses. 

One of the potential consequences of gene variants in GCK is GCK-MODY. Dr. med. Torben Hansen, a professor of genetics and a member of the PRISM center, notes that GCK-MODY patients tend to have high blood glucose levels but without the associated complications typical of other types of diabetes. However, due to the absence or inaccuracy of genetic data, many GCK-MODY patients are misclassified as having either type 1 or type 2 diabetes and thus are unnecessarily treated with medication.

Researchers identify gene variations that could revolutionize hereditary diseases
DNA Helix

The researchers estimate that around 1% of recent type 2 diabetes cases in Denmark may be attributed to a variant in the GCK gene. These patients do not require medication or may need different treatment. This breakthrough research highlights the potential of high-throughput experiments in ensuring a better diagnosis of hereditary diseases.

Successful identification of genes 

The researchers' success in identifying genes contributing to neurodegenerative diseases is also promising. They are currently developing precise methodologies to gain insights into these diseases' underlying mechanisms. The data obtained from this study allows the researchers to test and refine computational models for analyzing the effects of genetic variations, which can then be applied to other genes and diseases.