Type 2 diabetes (T2D) tends to run in families, and over the last five years the application of genomic technologies has led to discovery of more than 60 specific DNA variants that contribute to risk. My own research laboratory at NIH has played a significant role in this adventure. But this approach doesn’t just provide predictions of risk; it may also provide a path to developing new ways of treating and preventing this serious, chronic disease that affects about 26 million Americans.
In an unprecedented effort aimed at finding and validating new therapeutic targets for T2D, an international team led by NIH-funded researchers recently analyzed the DNA of about 150,000 people across five different ancestry groups. Their work uncovered a set of 12 rare mutations in the SLC30A8 gene that appear to provide powerful protection against T2D, reducing risk about 65%—even in the face of obesity and other risk factors for the disease .
All of the newly discovered mutations lead to the production of absent or abnormally shortened proteins that don’t function properly. That’s terrific news for researchers looking for new ways to treat and prevent T2D, because it’s generally much easier to develop drugs that inhibit proteins than ones that boost their activity.
In T2D, the body does not produce or use insulin properly, causing levels of glucose in the bloodstream to rise. Over time, this leads to heart disease, stroke, blindness, nerve damage, kidney damage, and amputations. Weight loss, a healthful diet, and exercise can all reduce glucose levels, but when these approaches fail, patients must take oral medications, insulin, or sometimes both [3,4].
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