Both type-one and type-two diabetes are known to be dangerous diseases
affecting blood sugar levels. However, many other forms of diabetes loom undetected in the shadows of the first two. In January, researchers at Vanderbilt University Medical Center in Nashville, Tennessee identified a genetic mutation that could help diagnose patients with a rare form of diabetes. The identification of this mutation may also lead to better treatment and detection of this rare form of the disease. “It opens up potential future therapies,” says Raymond Blind, a structural biologist on the research team. Published in The Journal of Clinical Investigation last month, the paper describes how Rachana Haliyur, a researcher on the team, found significant evidence of insulin- producing cells in the pancreas tissue of a thirty three-year-old deceased man. These insulin-producing cells, called “beta cells,” are responsible for moderating the glucose levels in our bodies. This kind of observation would be typical for healthy pancreas tissue, but this particular donor lived with type one diabetes for seventeen years. Normally, type one diabetes patients lack beta cells in their pancreas, and cannot effectively control blood sugar levels as a result. In this case, however, the man presumed to be living with type one diabetes contained the beta cells that nearly every other patient lives without. The discovery led the researchers to further examine the tissue. They ran numerous experiments, including exposing the tissue to varying levels of glucose and monitoring the cells’ responses. The beta cells, although appearing to be normal, produced nothing in the presence of a glucose stimulant. This behavior indicated that a less common form of diabetes might be involved. The researchers then sequenced the donor’s DNA to look for genetic variants associated with more rare forms of diabetes and identified a mutation in the “HNF1A” gene. Further investigation revealed that when this gene is broken, it leads to a condition that looks very similar to type one diabetes. When the HNF1A mutation is present, beta cells cells do not produce insulin as they should. On the surface the cells are present and indicate a healthy pancreas, but behind the scenes, the cells do not function properly and the overall effect mimics type one diabetes. Although the discovery may ultimately help doctors and researchers develop effective treatments for the rare form of diabetes, some experts are skeptical about whether or not an effective therapy can be developed in a timely manner. “There’s more research that needs to be done…we don’t know whether or not [developing a treatment] is feasible,” says Nicola Santoro, an Endocrinologist at Yale University in New Haven, Connecticut. Regardless of whether or not this discovery leads to a viable treatment, it may open the door to extensive future research and studies in the field.
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