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Mystery of four decades unravelled, a fifth player in energy production in the body

Posted:  Thursday, February 12, 2015

A new study has surprised scientists about what has remained hidden in the human genome for at least four decades. Energy production in the body was always considered to involve hexokinases comprising of 4 enzymes. The new study has however brought to light that there is actually a fifth player involved in the game of energy production.

This breakthrough research is published in the online journal Nature Communications. Hexokinases are known to play a critical role in all the energy production processes in the body. Interfering with these enzymes through medications is a revolutionary way of managing metabolic disorders such as diabetes.

The newfound enzyme is called HKDC1. According to scientists at Duke and Northwestern universities, discovering this enzyme has unlocked the door to further research into the metabolism of sugar and the genetic links to metabolic disorders, especially gestational diabetes.

Gestational diabetes can result in large for gestational age babies and increase their risk of developing obesity and diabetes in adult life. Although expectant mothers at risk of diabetes are advised a healthy diet and exercise to lower their risk, there currently isn't a method to screen women for their risk of developing high blood sugar while pregnant. Pregnant women are often diagnosed too late or after they have developed diabetes.

Although all humans possess this fifth enzyme, women with less of this gene are unable to metabolise glucose effectively during pregnancy. This new finding could pave the way for developing a test for pregnant women and HKDC1 may serve as a genetic predictor for gestational hyperglycaemia.

"The discovery of this gene creates a path forward to better predicting a woman's risk," commented Tim Reddy, Ph.D., a senior author of the study and assistant professor of biostatistics and bioinformatics at Duke. He 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."

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