The usual forms of diabetes are type 2 Diabetes, (which comprises 90 - 95% of all forms of diabetes) and type 1 diabetes. Type 2 Diabetes normally affects adults, and does not require insulin for control of hyperglycemia except in the more advanced stages. Type 1 diabetes, usually affects children and in this type of diabetes there is complete insulin deficiency and hence they require lifelong insulin injections, several times a day. However, there are many other forms of diabetes which are increasingly being recognized nowadays.
There is a genetic form of diabetes due to a single gene defect and hence these are called as ‘Monogenic Diabetes’. The commonest form of monogenic diabetes is ”Maturity Onset Diabetes of the Young (MODY)” which like type 1 Diabetes also affects young people or children. 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 by doing ‘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 of MODY done in India.
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, MODY 3 was found to be the commonest MODY which is in keeping with 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 MODY gene, the NKX6-1 gene which was found to be associated with MODY. Functional assessment of the NKX6-1 variant showed that they were functionally impaired, confirming that they were indeed the cause of MODY’
Delta Plus variant has a greater affinity to the mucosal lining in the lungs, higher compared to other variants. But the severity of its damage is not clear yet and its impact on the general population remains to be seen. The variant can be a cause for worry and need to keep a very close watch, alert experts.