In a breakthrough discovery, scientists from the Madras Diabetes Research Foundation (MDRF), Chennai, in collaboration with Washington University School of Medicine, St. Louis, USA, have identified a previously unrecognized subtype of Maturity-Onset Diabetes of the Young (MODY). This discovery emphasizes the importance of precision medicine and calls for broader access to genetic testing to enhance diabetes care, particularly in India.
At a press conference held at MDRF on Thursday, Dr. V. Mohan, Chairman of MDRF, alongside Dr. Radha Venkatesan, Head of Genomics at MDRF, unveiled the findings. This new MODY subtype is attributed to Loss of Function (LOF) mutations in the ABCC8 gene, a gene known for its role in regulating insulin release in the pancreas.
New Variant Challenges Existing Assumptions
MODY is a rare inherited form of diabetes, caused by mutations in a single gene, typically manifesting in adolescents and young adults. With 13 known MODY subtypes, this newly discovered variant challenges existing assumptions about the disease. The LOF mutations in ABCC8 impair the function of the potassium channel in pancreatic beta cells, disrupting insulin secretion, leading to a previously undocumented progression from early-life hypoglycemia to later-onset diabetes.
“This discovery marks the first documented transition from congenital hyperinsulinism to MODY, which will redefine how we understand and treat diabetes in young individuals,” said Colin G. Nichols, lead researcher from Washington University School of Medicine.
Clinical Implications and Treatment
The new variant does not respond to conventional diabetes treatments like sulphonylureas, which work by stimulating insulin secretion. This finding has significant implications for treatment, emphasizing the need for a deeper understanding of the genetic mechanisms behind the disease.
Radha Venkatesan, co-lead author and head of molecular genomics at MDRF, highlighted the clinical relevance: “Understanding the genetic cause of this variant will help guide treatment choices, ensuring that patients receive the most effective care.”
The Call for Genetic Testing
Dr. Mohan stressed the importance of genetic testing as part of routine diabetes diagnosis, particularly in regions like India. “Many patients with MODY are misclassified as having type 1 or type 2 diabetes. This discovery underscores the need for precise diagnosis and individualized treatment,” he said.
The study was based on clinical data from Indian patients, and researchers believe that wider access to genetic testing could lead to earlier diagnosis and more effective management of monogenic diabetes forms.
This groundbreaking research opens new avenues for targeted therapies and drug development, potentially changing the landscape of diabetes care worldwide.
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