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New Diabetes Type Found! Are You Misdiagnosed?
New Diabetes Type Found! Are You Misdiagnosed?

New Diabetes Type Found! Are You Misdiagnosed?

A team of scientists from the Madras Diabetes Research Foundation (MDRF), Chennai, and Washington University School of Medicine in the U.S. have identified a newly recognized form of a rare genetic type of diabetes, known as Maturity-Onset Diabetes of the Young (MODY). This discovery could pave the way for more accurate diagnosis and customized treatment of diabetes, especially in India.

What is MODY?

MODY is a rare and inherited form of diabetes that usually begins during adolescence or early adulthood. Unlike the more common types of diabetes (Type 1 and Type 2), MODY is caused by changes in a single gene. Until now, 13 subtypes of MODY were known. The new study has revealed a previously unidentified subtype, which challenges previous assumptions about the disease.

A Shift in Understanding: From Low to High Blood Sugar

Researchers discovered that this new MODY variant is linked to changes in the ABCC8 gene, which plays a key role in controlling how insulin is released from the pancreas. In earlier known cases, mutations in this gene increased insulin production (known as Gain of Function). However, this newly found variant causes the opposite effect — a Loss of Function, first leading to low blood sugar (hypoglycemia) in infancy and later developing into diabetes in adulthood. This pattern has not been seen in MODY before.

The Importance of Genetic Testing

Experts emphasized that this breakthrough underscores the urgent need to integrate genetic testing as a standard component of diabetes care.Many people with MODY are often wrongly diagnosed with type 1 or type 2 diabetes, which leads to incorrect treatment. Identifying the exact genetic cause of diabetes can ensure patients get the right treatment from the start.
Dr. Radha Venkatesan, Head of Genomics at MDRF and co-lead author of the study, explained that this newly discovered variant does not respond to commonly used drugs like sulfonylureas, which work well in other types of MODY. Understanding the patient’s genetic profile is essential to selecting the most effective treatment.

A Step Toward Precision Medicine

Dr. V. Mohan, Chairman of MDRF, emphasised that the discovery strengthens the case for precision medicine — a healthcare approach that tailors treatment based on an individual’s genetic makeup. “We need to make genetic testing more accessible, especially in India, where many cases go undiagnosed or are misclassified,” he said.

Why This Matters

The study, published in the journal Diabetes by the American Diabetes Association, was based on detailed clinical and laboratory data from Indian patients. Researchers believe that this discovery can improve care for thousands of people living with hidden or misdiagnosed forms of diabetes.

Dr. Colin G. Nichols, the study’s lead researcher from Washington University, added that this is the first documented case where a person shifted from congenital hyperinsulinism (too much insulin in infancy) to diabetes in adulthood — a unique development in the understanding of MODY.

Conclusion

The researchers are calling for awareness and adoption of genetic screening in routine diabetes care. This could lead to earlier diagnosis, better treatment options, and improved quality of life for patients with rare genetic forms of diabetes.

SourceInputs from various media Sources 

Priya Bairagi

Reviewed by Dr Aarti Nehra (MBBS, MMST)

I’m a pharmacist with a strong background in health sciences. I hold a BSc from Delhi University and a pharmacy degree from PDM University. I write articles and daily health news while interviewing doctors to bring you the latest insights. In my free time, you’ll find me at the gym or lost in a sci-fi novel.

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