MedGenome, Madras Diabetes Research Foundation and Genentech study has indicated a new  Monogenic form of Diabetes in India.

The usual forms of diabetes are type 2, and type 1. However, there are many other forms of diabetes which includes the monogenic diabetes which is  type 1.
 
The study was  published in ‘BMC Medical Genetics’ journal authored by Dr. V. Mohan and Dr. Radha Venkatesan from MDRF, , in collaboration with Dr. Andrew S. Peterson, Dr. Somasekar Seshagiri and Dr. Thong T. Nguyen from Genentech, California, and Dr. Ramprasad and Sam Santhosh at MedGenome, India.
 
The commonest form of patients with MODY are usually lean and because of their young age, they are often wrongly labeled as having type 1 diabetes and advised to have lifelong insulin injections. MODY can only be diagnosed with ‘genetic testing’. Further, it is now known that there are 14 different forms of MODY, each with its own unique clinical characteristics. While there have been a few scattered studies on different forms of MODY in India, this was the most comprehensive and largest study of all forms done in India, as per the report.

The study was carried out was based on a comprehensive genomic analysis of 289 individuals from India which included 152 clinically diagnosed MODY cases and 137 normal glucose tolerance subjects (NGT). None of the NGT subjects showed any genetic variants associated with MODY. Among the 152 clinically diagnosed MODY subjects, it was found to be the commonest which is similar to the  studies in Europe and UK. However, surprisingly, the second commonest MODY detected in India was MODY 12, (ABCC8 MODY). Moreover, 13 of the 14 known forms of MODY were detected in Indians. However, of great interest was the discovery of a novel NKX6-1 gene. Functional assessment of the NKX6-1 variant showed that they were functionally impaired, confirming that they were indeed the cause of MODY’

According to Dr.  Mohan, the significance of diagnosing monogenic forms of diabetes like MODY is that unless a correct diagnosis is made, patients can be wrongly diagnosed to have type 1 diabetes and advised to have unnecessary lifelong insulin injections. Once the diagnosis of MODY is confirmed, in most forms of MODY, insulin injections can be completely stopped and these patients can be treated with an inexpensive sulphonylurea tablet used for decades, to treat  diabetes. This is a dramatic change as far as the treatment and the life of these patients is  concerned.

“This is the first time in the world, the NKX6-1 gene mutation has been described as a novel form of MODY. Further studies are required  to see whether this MODY form is unique to Indians or present in other ethnic groups, said Dr. Venkatesan

Sam Santhosh, chairman, MedGenome said, the  study will help in further diagnostics research in this domain. The role of genomics in the healthcare industry is poised to grow at an exponential rate, and we endeavor to build a legacy of enabling Precision Medicine in India.