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The Hindu
08-05-2025
- Health
- The Hindu
MDRF, U.S. researchers call for precision treatment following discovery of a new subtype of monogenic diabetes
Scientists from the Madras Diabetes Research Foundation (MDRF), Chennai, in collaboration with Washington University School of Medicine in St. Louis, United States, have discovered a previously unrecognised subtype of Maturity-Onset Diabetes of the Young (MODY), and have called for wider access to genetic screening and precision treatment for diabetes patients, particularly in India. The findings were presented to the media at a conference held at the MDRF here on Thursday. MODY is a rare, inherited form of diabetes caused by mutations in a single gene, typically appearing in adolescents and young adults. While 13 MODY subtypes have been recognised to date, the newly identified variant challenges long-standing assumptions about the condition, doctors said. Need for genetic testing in diabetes management Researchers say the breakthrough not only adds to scientific understanding but also underscores the urgent need to integrate genetic testing into routine diabetes care. This, they noted, could mark a turning point in improving diagnosis, treatment, and long-term disease management for thousands of individuals living with undetected or misclassified forms of monogenic diabetes. The study, published in the journal — Diabetes —of the American Diabetes Association, identifies Loss of Function (LOF) mutations in the ABCC8 gene (it helps regulate insulin release in the pancreas by controlling a channel that responds to glucose levels, allowing insulin to be released into the bloodstream, when needed), in contrast to the Gain of Function (GOF) mutations previously linked to MODY and neonatal diabetes. The new variant results in early-life hypoglycemia, followed by later-onset diabetes — a progression previously undocumented in MODY cases. Colin G. Nichols, lead researcher, Washington University School of Medicine, highlighted in the study that the LOF mutation impairs potassium channel function in pancreatic beta cells, disrupting insulin secretion. He said the study marked the first observed switch from congenital hyperinsulinism to diabetes in maturity-onset diabetes of the young context. Clinical implications and treatment possibilities Radha Venkatesan, executive scientific officer, head of molecular genomics at MDRF and co-lead author, emphasised the clinical implications of this discovery. 'This variant does not respond to conventional treatments such as sulphonylureas, which are effective in other MODY forms. Understanding the underlying genetic mechanism is key to guiding appropriate therapy,' she said. V. Mohan, chairman of MDRF, reiterated the importance of incorporating genetic testing into standard diabetes diagnosis. 'Many patients with MODY remain undiagnosed or misclassified as having type 1 or type 2 diabetes. This discovery strengthens the case for precision diagnosis and treatment,' he said. The findings are based on clinical data and laboratory analysis of Indian patients. Researchers believe that expanding access to genetic testing could lead to earlier detection and more effective care for individuals with monogenic forms of diabetes.
Time of India
08-05-2025
- Health
- Time of India
Indian and US Scientists Discover New Subtype of MODY Diabetes
New Delhi: In a major discovery that could transform diabetes care worldwide, researchers from the Madras Diabetes Research Foundation (MDRF), Chennai, and Washington University School of Medicine, St. Louis, have identified a previously unknown genetic subtype of Maturity-Onset Diabetes of the Young (MODY). The study has been published ahead of print in the prestigious journal 'Diabetes', published by the American Diabetes Association. This breakthrough reveals a novel disease mechanism linked to the ABCC8 gene, which plays a key role in insulin production in the pancreas. The newly discovered MODY subtype arises from Loss of Function (LOF) mutations in this gene — a sharp contrast to the Gain of Function (GOF) mutations previously associated with this gene in other forms of diabetes. Prof Colin G Nichols, the lead researcher of this work from Washington University School of Medicine, St Louis, Missouri, USA states: 'Usually ABCC8 mutations work through Gain Of Function (GOF) mutations which lead to enhanced ABCC8 protein activity. This can occur in neonatal period when it is known as Neonatal Diabetes. In adults it occurs as ABCC8 MODY or MODY 12). Through our collaborative work with MDRF, using various experiments in the laboratory, we were able to show some novel mutations in the Indian patients with MODY which occur as Loss Of Function (LOF)." "LOF mutations, abolish or reduce the activity of protein and they normally lead to Congenital Hyperinsulinism (CHI) which presents as persistent low blood glucose levels (hypoglycemia) in childhood. These patients seem to have had CHI earlier but crossed over to the opposite condition, of high blood sugar (diabetes) in later life. This is the first demonstration of this mechanism in a MODY subtype to our knowledge," Prof Nichols added. The research involved in-depth genetic and functional studies of Indian patients clinically diagnosed with MODY. It was spearheaded in India by Dr. Radha Venkatesan, Executive Scientific Officer and Head of Molecular Genetics at MDRF, who called the discovery a "significant advancement in understanding the functional dynamics of potassium ATP (K-ATP) channels in pancreatic beta cells." Dr. Venkatesan explained that this subtype behaves differently from other well-known forms of MODY, such as MODY 3, MODY 1, and MODY 12, all of which typically respond well to sulphonylurea medications. However, individuals with this new subtype do not respond to such drugs, emphasizing the need for personalized treatment strategies. Dr. V. Mohan, Chairman of MDRF, said, 'This is a major milestone in diabetes research from India. The discovery highlights the importance of genetic testing for precision diagnosis. By identifying these distinct subtypes of MODY, we are paving the way for tailored therapies and improved outcomes for patients who would otherwise be misdiagnosed or inadequately treated.' MODY is a rare, inherited form of diabetes caused by mutations in a single gene and usually manifests in adolescence or early adulthood. To date, 13 MODY subtypes have been recognized. This newly identified variant challenges conventional understanding of how MODY develops and points to the need for broader access to genetic screening, particularly in low- and middle-income countries where such diagnostics are often unavailable. Researchers say the finding could guide the development of novel diabetes drugs targeting this specific genetic pathway and stress the importance of functional studies alongside genetic testing in unraveling complex diseases.
Observer
02-05-2025
- Health
- Observer
Breast cancer is becoming less deadly for younger women: US study
Young US women with breast cancer are not dying from the disease as often as a decade ago, researchers reported at the American Association for Cancer Research 2025 meeting in Chicago. From 2010 to 2020, breast cancer deaths among women ages 20-49 declined significantly across all breast cancer subtypes and racial and ethnic groups, with marked declines starting after 2016, according to an analysis of data from the national Surveillance, Epidemiology and End Results registry. Overall, the breast cancer death rate in this age group fell from 9.70 per 100,000 women in 2010 to 1.47/100,000 in 2020. The decline was sharper after 2016, likely due to advancements in treatment options, greater uptake of precision medicine, and expanded access to care and screening in women ages 40-49, study leader Adetunji Toriola of the Washington University School of Medicine in St. Louis said in a statement. While breast cancer mortality declined in every racial and ethnic group, non-Hispanic Black women had the highest rate in both 2010 (16.56/100,000) and 2020 (3.41/100,000). Non-Hispanic white women had the lowest rates in 2010 (9.18/100,000) and 2020 (1.16/100,000). 'We have made tremendous advances in reducing mortality from breast cancer in young women but there are still opportunities for improvements, especially in relation to eliminating disparities,' Toriola said. 'We must continue to perform impactful research to ensure a further reduction in breast cancer mortality, including research into understanding the tumour biology and molecular mechanisms driving carcinogenesis and treatment response in younger women.' GLP-1 DRUGS MAY CURB ATRIAL FIBRILLATION GLP-1 drugs that are used to treat diabetes and have become wildly popular for weight loss, may also be useful for controlling the common heart rhythm disorder atrial fibrillation, researchers reported at the Heart Rhythm 2025 meeting in San Diego. Researchers looked at more than 2,500 patients with type 2 diabetes, atrial fibrillation and obesity at 170 US Veterans Affairs medical centres. Those who were receiving a GLP-1 drug experienced a 13% reduction in major AF-related events during a median follow-up of three years, compared to patients receiving other medications for their diabetes. AF-related events included hospitalisations for the disorder, need for electroshock therapy to reset the heart rhythm, and ablation procedures to heat heart tissue in order to create scars that interrupt the electrical signals causing the arrhythmia. Researchers did not identify the drugs being taken but common examples of GLP-1 medicines for diabetes include Novo Nordisk's Ozempic, Rybelsus and Victoza, and Eli Lilly's Mounjaro and Trulicity. Because patients were taking low doses of GLP-1 drugs, rather than higher doses used for weight loss, the results suggest the arrhythmia benefits are independent of any weight-loss benefit, the researchers noted. The study was not designed to prove the GLP-1 drugs caused the reduction in AF events. But study leader Dr Varun Sundaram of the Louis Stokes Cleveland VA Medical Center and Case Western Reserve University said, 'Given the growing obesity epidemic and the rising prevalence of atrial fibrillation,' it lays the foundation for a new approach to treating AF if larger trials confirm the potential benefits. — Reuters
Time of India
02-05-2025
- Health
- Time of India
Breast cancer is becoming less deadly for younger women, US study finds
London: Young U.S. women with breast cancer are not dying from the disease as often as a decade ago, researchers reported at the American Association for Cancer Research 2025 meeting in Chicago. From 2010 to 2020, breast cancer deaths among women ages 20-49 declined significantly across all breast cancer subtypes and racial and ethnic groups, with marked declines starting after 2016, according to an analysis of data from the national Surveillance, Epidemiology, and End Results registry. Overall, the breast cancer death rate in this age group fell from 9.70 per 100,000 women in 2010 to 1.47/100,000 in 2020. The decline was sharper after 2016, likely due to advancements in treatment options, greater uptake of precision medicine, and expanded access to care and screening in women ages 40-49, study leader Adetunji Toriola of the Washington University School of Medicine in St. Louis said in a statement. While breast cancer mortality declined in every racial and ethnic group, non-Hispanic Black women had the highest rate in both 2010 (16.56/100,000) and 2020 (3.41/100,000). Non-Hispanic white women had the lowest rates in 2010 (9.18/100,000) and 2020 (1.16/100,000). "We have made tremendous advances in reducing mortality from breast cancer in young women but there are still opportunities for improvements, especially in relation to eliminating disparities," Toriola said. "We must continue to perform impactful research to ensure further reduction in breast cancer mortality, including research into understanding the tumor biology and molecular mechanisms driving carcinogenesis and treatment response in younger women." GLP-1 DRUGS MAY CURB ATRIAL FIBRILLATION GLP-1 drugs that are used to treat diabetes and have become wildly popular for weight loss, may also be useful for controlling the common heart rhythm disorder atrial fibrillation, researchers reported at the Heart Rhythm 2025 meeting in San Diego. Researchers looked at more than 2,500 patients with type 2 diabetes, atrial fibrillation and obesity at 170 U.S. Veterans Affairs medical centers. Those who were receiving a GLP-1 drug experienced a 13% reduction in major AF-related events during a median follow-up of three years, compared to patients receiving other medications for their diabetes. AF-related events included hospitalizations for the disorder, need for electroshock therapy to reset the heart rhythm, and ablation procedures to heat heart tissue in order to create scars that interrupt the electrical signals causing the arrhythmia. Researchers did not identify the drugs being taken but common examples of GLP-1 medicines for diabetes include Novo Nordisk's Ozempic, Rybelsus and Victoza, and Eli Lilly's Mounjaro and Trulicity. Because patients were taking low doses of GLP-1 drugs, rather than higher doses used for weight loss, the results suggest the arrhythmia benefits are independent of any weight-loss benefit, the researchers noted. The study was not designed to prove the GLP-1 drugs caused the reduction in AF events. But study leader Dr. Varun Sundaram of the Louis Stokes Cleveland VA Medical Center and Case Western Reserve University said, "given the growing obesity epidemic and the rising prevalence of atrial fibrillation," it lays the foundation for a new approach to treating AF if larger trials confirm the potential benefits.
Reuters
02-05-2025
- Health
- Reuters
Health Rounds: Breast cancer is becoming less deadly for younger women, US study finds
May 2 (Reuters) - (To receive the full newsletter in your inbox for free sign up here) Young U.S. women with breast cancer are not dying from the disease as often as a decade ago, researchers reported, opens new tab at the American Association for Cancer Research 2025, opens new tab meeting in Chicago. Keep up with the latest medical breakthroughs and healthcare trends with the Reuters Health Rounds newsletter. Sign up here. From 2010 to 2020, breast cancer deaths among women ages 20-49 declined significantly across all breast cancer subtypes and racial and ethnic groups, with marked declines starting after 2016, according to an analysis of data from the national Surveillance, Epidemiology, and End Results registry. Overall, the breast cancer death rate in this age group fell from 9.70 per 100,000 women in 2010 to 1.47/100,000 in 2020. The decline was sharper after 2016, likely due to advancements in treatment options, greater uptake of precision medicine, and expanded access to care and screening in women ages 40-49, study leader Adetunji Toriola of the Washington University School of Medicine in St. Louis said in a statement. While breast cancer mortality declined in every racial and ethnic group, non-Hispanic Black women had the highest rate in both 2010 (16.56/100,000) and 2020 (3.41/100,000). Non-Hispanic white women had the lowest rates in 2010 (9.18/100,000) and 2020 (1.16/100,000). 'We have made tremendous advances in reducing mortality from breast cancer in young women but there are still opportunities for improvements, especially in relation to eliminating disparities,' Toriola said. 'We must continue to perform impactful research to ensure further reduction in breast cancer mortality, including research into understanding the tumor biology and molecular mechanisms driving carcinogenesis and treatment response in younger women.' GLP-1 DRUGS MAY CURB ATRIAL FIBRILLATION GLP-1 drugs that are used to treat diabetes and have become wildly popular for weight loss, may also be useful for controlling the common heart rhythm disorder atrial fibrillation, researchers reported, opens new tab at the Heart Rhythm 2025, opens new tab meeting in San Diego. Researchers looked at more than 2,500 patients with type 2 diabetes, atrial fibrillation and obesity at 170 U.S. Veterans Affairs medical centers. Those who were receiving a GLP-1 drug experienced a 13% reduction in major AF-related events during a median follow-up of three years, compared to patients receiving other medications for their diabetes. AF-related events included hospitalizations for the disorder, need for electroshock therapy to reset the heart rhythm, and ablation procedures to heat heart tissue in order to create scars that interrupt the electrical signals causing the arrhythmia. Researchers did not identify the drugs being taken but common examples of GLP-1 medicines for diabetes include Novo Nordisk's ( opens new tab Ozempic, Rybelsus and Victoza, and Eli Lilly's (LLY.N), opens new tab Mounjaro and Trulicity. Because patients were taking low doses of GLP-1 drugs, rather than higher doses used for weight loss, the results suggest the arrhythmia benefits are independent of any weight-loss benefit, the researchers noted. The study was not designed to prove the GLP-1 drugs caused the reduction in AF events. But study leader Dr. Varun Sundaram of the Louis Stokes Cleveland VA Medical Center and Case Western Reserve University said, "given the growing obesity epidemic and the rising prevalence of atrial fibrillation," it lays the foundation for a new approach to treating AF if larger trials confirm the potential benefits.
