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MDRF, US Scientists discover new diabetes subtype

Chennai, May 8 (UNI) In a major breakthrough, researchers from the Chennai-based Madras Diabetes Research Foundation (MDRF) and Washington University School of Medicine in St. Louis,
Missouri, USA, on Thursday jointly announced the discovery of a new subtype of MODY diabetes, potentially transforming how certain forms of the disease are diagnosed and treated worldwide.
The discovery centers around a rare, inherited form of diabetes called Maturity-Onset Diabetes of
the Young (MODY), a genetic form of diabetes typically diagnosed in childhood and adolescence.
It has been published online ahead of print in the prestigious journal ‘Diabetes’, published by the American Diabetes Association.
The study, based on a collaborative investigation involving detailed genetic and functional analyses
of Indian patients clinically diagnosed with MODY, reveals a groundbreaking mechanism behind a subtype of MODY affecting the ABCC8 gene which plays a crucial role in pancreatic beta cell function.
Addressing a press conference here, Prof Colin G Nichols, the lead researcher of this work from Washington University said 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 and 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 Colin said.
Dr. Radha Venkatesan, Executive Scientific Officer and Head of Molecular Genetics, who is the lead researcher of this work from MDRF, emphasizes the importance of the work and said “this discovery of novel genetic subtype of MODY represents a significant advancement in our understanding of MODY and explains the function of potassium ATP (K-ATP) channels in the pancreatic beta cell membrane.
"Through our work in the lab and follow-up of our patients, we propose that diabetes driven by
KATP-Gain of Function and KATP-Loss Of Function mutations should be officially be recognized
as distinct disease subtypes, with different molecular basis and different clinical and therapeutic implications”, she said.
Dr. V. Mohan, Chairman of MDRF said “We are excited that we have discovered a new sub type
of MODY diabetes. This work underscores the importance of genetic testing and functional
understanding for precision diagnosis of diabetes in particular and MODY subtypes of diabetes in particular. By identifying these unique subtypes of MODY, we are close to providing more precise diagnosis, treatment and better care for individuals affected by this novel subtype of MODY.
Patients with this new (Loss of Function) MODY subtype do not respond to Sulphonylureas unlike other forms of MODY like MODY 3 & MODY 1 & MODY 12. Further studies are needed to assess
the best anti-diabetic medicines to treat this novel type of diabetes. This study also opens up new avenues for discovery of novel drug targets in diabetes treatment, he said.
MODY is a rare, inherited form of diabetes caused by mutations in a single gene, typically presenting in adolescents and young adults. While 13 MODY subtypes have been recognized so far, this newly identified variant upends long-standing assumptions about how the disease develops.
The discovery not only expands the scientific understanding of MODY but also underscores the urgent need for wider access to genetic screening — particularly in countries like India, where such testing is not yet part of routine diabetes care.
This breakthrough could mark a turning point in advancing personalized diagnosis, treatment, and long-term management for thousands of individuals living with undetected or misclassified forms of diabetes.
UNI GV 1635
Tags: #MDRF# US Scientists discover new diabetes subtype
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