Dr. V. Mohan, Chairman, Madras Diabetes Research Foundation, along with Dr. Radhou Venkatesan, Head of Genomics, Madras Diabetes Research Foundation, addressing a press conference | Photo Credit: Hind
Scientists from Madras Diabetes Research Foundation (MDRF), Chennai, in cooperation with Washington University School of Medicine in St. Louis in the United States, previously unrecognized subtype of diabetes in patients with times, especially in India.
The findings were presented to the media at the conference held on MDRF on Thursday.
Modes are a rare, inherited form of diabetes caused by mutations in a single gene, usually occurs in adolescents and young adults. While 13 subtypes have been recognized so far, the newly identified variants of the call for long -term assumptions of the condition, the doctors said.
Need genetic testing while driving diabetes
Scientists argue that the breakthrough not only increases scientific understanding, but also underlines the urgent need to integrate genetic testing into routine care for diabetes. As they have noted, this could mean a turning point in improving diagnosis, treatment and long -term treatment of diseases in thousands of individuals living with undetected or poorly classified forms of monogenic diabetes.
These defects primarily affect the cells of the beta pancreatic, which are responsible for the synthesis and secretion of insulin. | Photo Credit: Special Arrangement
Studies, Published in a magazine – Diabetes – the American association Diabetes Association, identifies the loss of functions (LOF) mutations in the ABCC8 gene (helping to regulate insulin insulin control by controlling the channel that responds to glucose levels, allowing insulin to release), in contrast to GOF (GOF) Neonatal, and neonatal, which is released), and neonatal, and neonatal, and neonatal that is released, and neonatal, and neonatal. The new variant results in hypoglycaemia in an early life, followed by diabetes of a later onset-progres previously not documenting in Mods cases.
Colin G. Nichols, Head of Researcher, Washington University School of Medicine, stressed in the study that lof mutation worsens the function of potassium channels in pancreatic beta cells and disrupts insulin secretion. He said that the study meant the first observed transition from congenital hyperinsulinism to diabetes in diabetes of a young context of maturity.
Clinical consequences and treatment options
Radha Venkatesan, Executive Scientific Director, head of molecular genomics in MDRF and cooperation cooperation, emphasized the clinical consequences of this discovery. “This variant does not respond to conventional treatment, such as sulfonyl, which are effective in other forms of mods. Understanding to the basic genetic mechanism is the key to leading appropriate therapy,” she said.
Insulin secretion is a process by which pancreatic beta cells release insulin into the bloodstream. | Photo Credit: Special Arrangement
Sulphonylure is working by stimulating insulin release from pancreatic and lowering blood sugar Photo Credit: Special Arrangement
V. Mohan, chairman of MDRF, repeated the importance of incorporating genetic testing into a standard diagnosis of diabetes. “Many MOD patients remain undiagnosed or incorrectly classified as type 1 or 2 diabetes. This discovery strengthens the case of accurate diagnosis and treatment,” he said.
The findings are based on clinical data and laboratory analysis of Indian patients. Scientists believe that the expansion of the approach to genetic testing could lead to earlier detection and more effective care of individuals with monogenic forms of diabetes.
Published – May 8, 2025 9:54
