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Revised genetic links better explain metabolic disorders

by Ion Gireada on 5 February 2015
Health, Medical technology     |      Gestational diabetes,  hexokinases,  HKDC1,  hyperglycemia

More than 40 years ago, scientists discovered four enzymes that work together to allow our body to extract energy from food. These catalysts, called hexokinases, were the subject of extensive research into metabolic processes, but recent research discovered a fifth player, according to scientists at Duke and Northwestern universities.

The findings appear in the online journal Nature Communications.

Tim Reddy, Ph.D., a senior author of the study and assistant professor of biostatistics and bioinformatics at Duke said: “This swims against the past 40 years of research and what we thought we knew. Hexokinases are critical to basically all of our energy production. Finding a fifth one opens the door to more study into how we metabolize sugar, as well as genetic links to metabolic disorders.”

Researchers mention the new protein, called HKDC1, may suggest whether an expectant mother develops hyperglycemia, also known as excess blood sugar, during pregnancy. In a hyperglycemic environment, it is difficult for a fetus to grow, and exposes the child to an elevated risk of obesity later in life.

At least 4 percent of pregnant women develop diabetes during pregnancy, and as many as 400,000 women each year have gestational hyperglycemia in the U.S., equal to about 10 percent of expectant mothers.

According to a 2008 study published in the New England Journal of Medicine, hyperglycemia during pregnancy may have many of the same harmful long-term health effects as full-blown gestational diabetes.

“We know that these children may be more likely to be born large and be subject to health impacts down the road, such as obesity and diabetes,” Reddy said.

Every person has this fifth hexokinase, but it seems that during pregnancy, women with less of this gene are not able to metabolize glucose as well, the study showed.

“The discovery of this gene creates a path forward to better predicting a woman’s risk,” Reddy said. “Knowing that there is this new hexokinase at play could also give us more information on how to inhibit or activate it, and anything we can to do disrupt the cycle would be an important advance to stem the epidemic of diabetes we see today.”

Revised genetic links better explain metabolic disorders

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