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Study discovers genetic variants that contribute to diabetes

Category: Diabetes

A recent study published in the journal Nature Genetics has discovered three genetic variants, or DNA mutations, that are involved with the production of the hormone insulin. The findings may give scientists valuable insight on what causes diabetes.

"Studying genetic variants - even rare ones - helps us learn how genes affect health and disease," said study author Karen Mohlke, Ph.D., an associate professor of genetics at the University of North Carolina School of Medicine. "In this study, we've implicated new genes as playing a role in insulin processing and secretion."

This is also the first study to reveal genetic variants using a technology known as exome array genotyping, which is a more affordable procedure than the standard genetic sequencing method. Exome array genotyping is also extremely efficient and Mohlke noted that it allowed investigators to analyze nearly 8,000 subjects. He believes that the technology will be used to discover other genetic variants that are linked to conditions like obesity and cancer.

The data that the researchers analyzed came from from a previous study conducted at the University of Eastern Finland. The investigators plan to follow up this study by finding out how the insulin-influencing genetic variants lead to diabetes.

Diabetes and insulin
Diabetes develops when a person has abnormally high levels of blood sugar, or glucose. It is caused by the body being resistant to insulin, which helps control glucose levels, or the body not producing enough insulin. According to the National Institutes of Health (NIH), nearly 10.9 million people 65 and older had diabetes in the United States in 2010, while approximately 215,000 people who were younger than 20 years old had developed the condition that same year.

Symptoms
Some symptoms of diabetes includes blurry vision, excessive thirst, fatigue, hunger, frequent urination and weight loss. It can also lead to eye problems such as light sensitivity, painful sores and infections on the feet and skin and nerve damage that results in a pain, tingling or loss of sensation in the body.

Diagnosis and treatment
There are a few different blood tests a physician may order to diagnose a patient with diabetes.These include a fasting blood glucose level test, a hemoglobin A1c blood test and an oral glucose tolerance test, according to the NIH. Many people who have diabetes are unaware of it, and overweight children and adults who are older than 45 years old should undergo testing.