The Genetics Diabetes – A Growing Burden in The Society


Metabolic problems arise when abnormal chemical reactions disrupt the systematic breakdown of food into usable forms of nutrients for the body. Such problems result in an imbalance in the hormones required by one to stay healthy. Diabetes, one such metabolic problem, is a chronic disorder that occurs either when the pancreas does not produce enough insulin or when the body is not able to effectively use the insulin it produces. Insulin is a hormone that regulates blood sugar.

Hyperglycemia, or raised blood sugar

It is a common effect of uncontrolled diabetes and over time leads to serious damage to many of the body’s systems, like vascular dysfunction, heart failure, neuronal damage, kidney failure, and blindness.

Globally, 400 million people suffer from this blood sugar disease; this number is estimated to be 692 million by the year 2030. 80% of people with diabetes live in low- and middle-income earning areas. In 2013, diabetes was the direct cause of 1.8 million deaths. In 2015, this number rose to 5.9 million, with 10% of adults, 18 years and older suffering from diabetes. The number of people with type 2 diabetes is increasing in every country and the greatest number of people with diabetes is between 45 and 60 years of age. 200 million people with diabetes are still undiagnosed.

About 6%-8% of diabetes has underlying genetic causes. An example of this kind of diabetes is Maturity Onset Diabetes of the Young (MODY), a monogenic form of diabetes caused by mutations in the dominant gene that disrupt insulin production. They result from interactions of multiple gene variants each exerting only a modest effect, and the environment thus genes are called polygenic.

Genetic testing of diabetes

Genetic testing for sugar or diabetes is now a reality. newborn infants with diabetes in the blood are now being immediately genetically tested for all implicated genes while previously they would only get genetic testing years after diabetes was diagnosed, after which the genes would be tested one at a time. unfortunately, this means that the genetic diagnosis is made early, giving the doctor information about how best to treat the patient and inform them of the medical problems the patients are likely to develop in the coming time.

This is a paradigm shift in how genetic testing fits in with the patients’ symptoms. In the earlier time, symptoms were used to select which gene would be evaluated first – now the early comprehensive gene testing means that the genetic result predicts clinical features that have not yet developed. This helps the doctors to anticipate the existing problems for their patients and put the appropriate health care in place to reduce their effect.

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