In a groundbreaking first, scientists from the Madras Diabetes Research Foundation (MDRF) in Chennai and Washington University in St. Louis, USA, have identified a new subtype of diabetes. The discovery focuses on Maturity-Onset Diabetes of the Young (MODY), a rare inherited form of diabetes that typically appears during childhood or adolescence.
Genetic Study Uncovers Role of ABCC8 Gene
The findings, published in the journal Diabetes, emerged from a detailed genetic and laboratory study of Indian patients diagnosed with MODY. Researchers identified that mutations in the ABCC8 gene, which plays a vital role in the function of insulin-producing pancreatic beta cells, cause this newly discovered subtype. Since insulin is essential for regulating blood sugar, abnormalities in its production directly impact diabetes development.
Dr. V. Mohan, Chairman of MDRF, highlighted the importance of this discovery, stating,
“By identifying these unique subtypes of ABCC8-MODY, we are close to offering more accurate diagnosis, targeted treatments, and better care for young patients.”
Different Mutations, Different Outcomes
So far, scientists have identified 13 new subtypes of MODY, each caused by a mutation in a single gene affecting insulin secretion. According to Prof. Colin G. Nichols, the lead researcher from Washington University, most ABCC8 mutations increase protein activity, often leading to neonatal diabetes in infants or ABCC8 MODY in adults.
However, the Indian study revealed previously unknown mutations that reduce or halt the protein’s function. These specific changes typically cause Congenital Hyperinsulinism (CHI) in children, a condition where blood sugar drops dangerously low. Interestingly, the same patients later developed high blood sugar or diabetes as adults, revealing a surprising progression from one extreme to another.
Why Genetic Testing Matters
As reported by indianexpress, these findings show that different mutations within the same gene can cause vastly different effects—from excess insulin in childhood to insulin deficiency in adulthood. This underscores the need for detailed genetic and functional testing to guide diagnosis and treatment.
Dr. Mohan explained:
“This work highlights how essential genetic testing is for the precise diagnosis of MODY. We also found that this new subtype doesn’t respond to Sulphonylureas, which are commonly used treatments. This is unlike other types such as MODY 1, 3, or 12.”
Personalized Treatment and Clinical Recognition
Currently, there’s no way to prevent such inherited disorders. However, early recognition through clinical signs or family history can help identify those at risk and allow for timely intervention.
Dr. Mohan added that while genetic testing is important, it is not required for every patient.
“Some cases show clear clinical features that experienced doctors can recognize. Knowing how to detect these patterns ensures accurate diagnosis and better patient management.”
A Step Toward Precision Medicine in Diabetes
Dr. Mohan also emphasized the need for personalized treatment approaches in diabetes.
“Just as breast cancer is now treated based on its molecular profile, diabetes care must move toward precision medicine. This study is a significant step in that direction.”