Key Discovery
- Scientists from Madras Diabetes Research Foundation (MDRF), Chennai, in collaboration with Washington University School of Medicine, U.S., identified a new subtype of MODY (Maturity-Onset Diabetes of the Young).
- Published in the journal Diabetes by the American Diabetes Association.
Relevance : GS 2(Health)
What is MODY?
- MODY is a rare, inherited form of diabetes caused by single-gene mutations.
- Typically appears in adolescents or young adults.
- 13 subtypes of MODY had been recognised before this study.
- The new variant challenges existing assumptions about MODY.
Scientific Breakthrough
- Study revealed a loss-of-function (LOF) mutation that:
- Affects potassium channels in pancreatic beta cells.
- Disrupts insulin secretion.
- Notably, it marks the first case of a switch from congenital hyperinsulinism to diabetes in MODY context.
Clinical Implications
- The new MODY subtype is non-responsive to conventional treatments like sulphonylureas, which work for other MODY forms.
- Understanding the specific genetic mutation is crucial for selecting the right therapy — an example of precision medicine.
Call for Wider Genetic Screening
- V. Mohan (MDRF Chairman) emphasized the need to integrate genetic testing in routine diabetes diagnosis.
- Many MODY cases in India are misdiagnosed as Type 1 or Type 2 diabetes, leading to inappropriate treatment.
- Radha Venkatesan (MDRF) stressed that genetic screening can lead to better clinical decisions and targeted treatments.
India-Specific Relevance
- The findings are based on clinical and lab data of Indian patients, underlining the importance of region-specific research.
- Highlights the need for accessible and affordable genetic diagnostics in India’s vast diabetic population.
Policy and Research Implications
- Supports mainstreaming precision medicine in India’s diabetes care.
- Urges investment in genetic infrastructure and awareness, especially in public health systems.
