Researchers study rare form of genetic diabetes
$3.7M NIH grant used to create guidelines for identification, treatment
BALTIMORE –– Sophia Baratta thought she was in the best shape of her life until a doctor diagnosed her with prediabetes after tests showed elevated levels of glucose in her blood.
At the time, she spent grueling hours in the gym preparing for amateur kickboxing competitions. The doctor ordered the Baltimore kindergarten teacher to watch what she ate after the diagnosis, but Baratta already followed a strict diet as part of her training regimen.
“It just didn’t make any sense,” said Baratta, 29, who was first told she had higher sugar levels in college.
A simple genetic test eventually explained what was happening.
University of Maryland School of Medicine geneticists found that Baratta has a rare form of diabetes not brought on by the immune system problems that destroy insulinproducing cells, as in Type 1 diabetes, or by the bad health habits typical for Type 2 diabetes.
Baratta’s diabetes is caused by a mutation in a single gene that runs in families. Scientists have discovered more than 20 genes where mutations can lead to what is called monogenic diabetes, according to the University of Chicago, which has conducted extensive research on the topic. The disease appears, and should be treated, in different ways depending on which gene is mutated.
Baratta’s prediabetes caused her blood sugar levels to naturally hover at slightly elevated levels. No amount of healthy eating or exercise would bring the levels down. The elevated blood sugar posed no risk to Baratta’s health, despite her doctor’s warnings to get it under control.
Researchers at the University of Maryland believe that many others like Baratta are misdiagnosed, leading to unnecessary treatment — and, in some cases, the wrong treatment. They are using a $3.7 million grant from the National Institutes of Health to work on correctly identifying more people with monogenic diabetes through genetic testing and tracking the common characteristics in these patients. They hope to create guidelines to help doctors better identify and treat those patients.
Nobody knows how many people have monogenic diabetes; estimates have put it at 1 percent to 2 percent of all diabetes cases, but some researchers believe the figure could be higher.
University of Maryland researchers believe that many physicians don’t know enough about monogenic diabetes to correctly diagnose it and may pursue traditional treatments for Type 1 or 2 diabetes.
“When you see someone with high glucose ... the normal medical impulse is to treat that because you don’t want the person to develop complications,” said Toni Pollin, lead researcher on the University of Maryland study.
The treatment is different from that for Types 1 and 2. Patients with Type 1 diabetes require treatment with insulin for survival. Those with Type 2 diabetes typically receive the drug metformin, which helps the body respond properly to the insulin it naturally produces, and decreases the amount of sugar made by the liver and absorbed by the stomach and intestines.
Certain forms of the monogenic diabetes respond better to oral medications called sulfonylureas, which enable the patient to release their own insulin. Some types of neonatal diabetes, a form of monogenic diabetes in babies, also can be better treated this way.