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The Missing Link: Researchers Draw a Direct

Connection Between a Genetic Mutation and a Rare


Form of Diabetes

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.