A novel type of diabetes? Indian, US researchers identify new genetic variant among kids
For the first time, researchers from the Madras Diabetes Research Foundation (MDRF) in Chennai and Washington University in St. Louis, USA, have identified a new subtype of diabetes. This breakthrough discovery focusses on a rare inherited form of diabetes known as Maturity-Onset Diabetes of the Young (MODY), which usually appears in childhood or adolescence.
The study, published in the journal Diabetes, was based on a joint investigation that involved detailed genetic and laboratory analysis of Indian patients diagnosed with MODY. Their findings reveal how a specific gene, ABCC8, which is crucial for the proper functioning of the insulin-producing pancreatic beta cells, causes the MODY subtype. Insulin levels are crucial for blood sugar control.
'This is a major step forward. By identifying these unique subtypes of ABCC8-MODY, we are close to providing more precise diagnosis, treatment and better care for young patients,' said diabetologist Dr V. Mohan, Chairman of MDRF.
MODY is an uncommon, inherited form of diabetes caused by single-gene mutations that affect pancreatic insulin production. To date, 13 subtypes of MODY have been identified. Prof Colin G. Nichols from Washington University in St Louis, USA and lead researcher said that gene mutations usually increase the activity of the ABCC8 protein, which can cause neonatal diabetes in infants or a form of diabetes called ABCC8 MODY in adults. However, researchers found some new mutations in Indian patients that actually reduce or stop the protein's activity. These types of mutations usually cause a condition called Congenital Hyperinsulinism (CHI), where children have persistently low blood sugar. Interestingly, the patients in this study seemed to have had CHI in childhood but later developed high blood sugar, or diabetes, as adults.
Essentially these findings suggest that even within the same gene, different mutations can cause very different effects — ranging from too much insulin to too little. This highlights the importance of detailed genetic and functional testing. 'This work underscores the importance of genetic testing and functional understanding for precision diagnosis of diabetes in general and MODY subtypes of diabetes in particular. We also observed that patients with this new MODY subtype do not respond to Sulphonylureas (treatment) unlike other forms of MODY like MODY 3, MODY 1 and MODY 12,' Dr Mohan said.
There is currently no way to prevent these disorders as they result from genetic defects. However, identifying individuals at risk through clinical signs or family history can help predict who may develop the condition and allow for timely intervention, according to Dr Mohan. He further noted that genetic testing is not necessary for every patient. 'Some cases present with classical clinical features that experienced clinicians should be able to recognise. It is essential to know how to detect these presentations to ensure accurate diagnosis and proper management,' he added.
This type of diabetes needs precision medicine, feels Dr Mohan. 'Each type of breast cancer is now treated based on its specific molecular profile. However, in conditions like diabetes this personalized approach has yet to be developed.This study lays the ground,' he added.
Anuradha Mascarenhas is a journalist with The Indian Express and is based in Pune. A senior editor, Anuradha writes on health, research developments in the field of science and environment and takes keen interest in covering women's issues. With a career spanning over 25 years, Anuradha has also led teams and often coordinated the edition.
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