Doctors at the Neonatal Intensive Care Unit (NICU) of BJ Government Medical College and Sassoon General Hospital, Punehave identified an association between a new genetic mutation and transient neonatal diabetes mellitus, a rare metabolic disorder.
This discovery, made in an extremely premature newborn, is being recognized internationally as the first case worldwide linking this specific genetic mutation with transient neonatal diabetes mellitus.
Published in the Cureus Journal of Medical Science, the researchers said this was the first documented case worldwide linking the MS4A6A mutation to transient neonatal diabetes and the reason it was also important is that it now prevents unnecessary lifelong insulin therapy.
“This unique case involved a male baby born at just 27 weeks’ gestation, weighing only 720 grams, who was admitted to the NICU of Sassoon Hospital. During the early neonatal period, the baby developed persistent hyperglycemia due to insulin deficiency, a condition known as Neonatal Diabetes Mellitus, an extremely rare disorder. Despite initially requiring insulin therapy, the baby’s diabetes resolved spontaneously, confirming the diagnosis of Transient Neonatal Diabetes Mellitus,” he said. Dr Aarti Kinikar, Professor and Head of the Department of Paediatrics at BJ Government Medical College said.
Advanced genetic testing revealed a previously unreported homozygous mutation in the MS4A6A gene, a gene never before associated with neonatal diabetes mellitus anywhere in the world. More advanced genetic analyzes confirmed the authenticity of the find, reinforcing its scientific importance.
This landmark discovery, published in an international peer-reviewed journal, is the result of a collaborative effort by doctors and researchers, including Sohrab Shakeel, Sandeep Kadam, Sameer Pawar, Dhyey Pandya, Pragathi Kamath, Rahul Dawre, Kanchan Sakharkar, Abhinav Kachare, Sangeeta Chivale, Suvidha Sardar, Abhilash Yamavaram, Poonam Mane, Prakash Gambhir, Parag M. Tamhankar and Salil. Vaniawala.
Acknowledging the scientific contribution, Dr. Eknath Pawar, Dean, Sassoon Hospital, formally congratulated Dr. Arti Kinikar along with her dedicated team of Paediatrics and Neonatology.
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Dr. Pawar noted that such discoveries highlight how government medical colleges can produce research of global relevance and scientific excellence. “It establishes the Sassoon Hospital NICU as a center of excellence in neonatal research along with the Center of Excellence in Clinical Genetics,” Dr Pawar added.
About NDM, why it is important and how accurate genetic diagnosis is
Neonatal diabetes mellitus (NDM) is a rare metabolic disorder characterized by elevated blood glucose levels (hyperglycemia) that appear within the first six months of life. Although NDM is usually caused by single gene mutations, the MS4A6A gene, previously associated with immune regulation and calcium signaling, has not been reported to be related to this condition.
With an estimated incidence of one in 90,000 to 160,000 live births, it is classified into two main groups: permanent neonatal diabetes, which requires lifelong treatment, and transient neonatal diabetes mellitus, in which hyperglycemia resolves spontaneously, usually in the first few months, but carries a high risk of relapse in the future.
However, a subset of NDM cases remain without a molecular diagnosis, the researchers said in the report. Therefore, an accurate genetic diagnosis is important as it informs prognosis and therapy. According to Dr. Kinikar, treatment should now focus on the high risk of relapse throughout life, especially during metabolic stress. “Parents have been educated on how to manage sick days and long-term monitoring is mandatory.
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