By Dr Sudhindra Kulkarni
Diabetes is characterised by high blood sugar levels which can result in long-term complications related to the heart, brain, kidney, eyes and feet. There are various types of diabetes, the most common of which is type 2. Types 1 and 2 are of polygenic origin, meaning they are related to changes or defects in multiple genes. Other factors like the environment also come into play.
Thus, diabetes is a result of multiple factors, of which defects in the insulin hormone is the prime one. In type 1 diabetes, the beta cells of pancreas are extensively damaged and hence unable to produce insulin. This occurs typically in the first decade of life or early in the second decade. Such patients need insulin injections. In type 2 diabetes, the beta cells of pancreas are functioning, but are not able to produce enough insulin to meet the demands of the body. This could be either because of a genetic problem, or multiple defects in the various organ systems of the body. One such subtype of type 2 diabetes is what is called ‘MODY’ (Maturity Onset Diabetes of the Young).
MODY is typically of a monogenic form, and a result of mutations or changes in a single gene. It accounts for 1-4 per cent of all diabetes cases. This rare form of diabetes is inherited from one or both parents. Sometimes the mutation develops spontaneously, meaning it is not carried by either of the parents. Mutations are abnormalities or defects in the genetic material, passed on by one generation to the next, which affect the normal functioning of the genes, resulting in reduced production of hormones and peptides, which are vital to sustain normal bodily functions.
In MODY, the mutations result in decreased production of insulin, as the genes providing instructions for making proteins within the cells do not function properly. Insulin is the hormone which is required for keeping the blood sugar levels under control.
It is important to recognise and diagnose MODY, as the behaviour of diabetes is different from the most common type 2 diabetes. The onset of MODY is usually during adolescence or early adulthood. The clinical features depend on the gene mutation a person has.
Symptoms may be mild to moderate, and some patients will not develop any long-term complications. Some types of MODY, however, require specific treatment with either insulin or sulfonylureas. Typically, family history of diabetes in multiple successive generations will be present. The diagnosis of MODY can be confirmed by genetic testing. A proper diagnosis means better long-term treatment planning as well as mapping the prognosis.
Restrictions similar to type 2 diabetes apply for these patients. Dietary modification with the right balance of carbohydrates, proteins and fat with the right mix of greens and dairy products would be suggested. Lifestyle modification will be essential, although considering that problem is more of a genetic defect, it may have limited implications. Close monitoring for those on multiple tablets and insulin injections is needed to achieve better control of sugars.
(The writer is a consultant endocrinologist, Fortis Hospital, Mulund)
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