New Research Uncovers Rare Genetic Mutation That Could Potentially Lead To Improved Diabetes Treatments And Outcomes
According to the CDC’s latest 2022 report, just over thirty-seven million Americans– or about one in ten people– have diabetes. Moreover, one in five diabetics is unaware they have the disease.
But, new research conducted by the University of Utah in collaboration with Harvard Medical School and the Joslin Diabetes Center is believed to have potentially uncovered new treatment avenues that can apply to a wide range of diabetics.
The medical community has known that overweight or obese people produce less adiponectin– a crucial hormone that inhibits cell death, increases insulin sensitivity, and lowers inflammation.
In turn, these individuals are more likely to suffer insulin resistance, kidney disease, type two diabetes, and other potentially fatal conditions.
But, the researchers sought to ascertain if there is a genetic link for diabetic kidney disease by analyzing fourteen DNA samples from a single-family unit.
Six family members spanning three generations were found to have had both diabetes and end-stage kidney disease.
Then, using these findings, the team used genome sequencing in order to isolate a defected cell known as ADIPOQ. This cell is responsible for encoding the adiponectin protein and, when mutated, the ability to produce the hormone is disrupted.
Moreover, lower adiponectin protein production ultimately leads to the decreased breakdown of ceramides– which previous studies have found to be a high-risk factor for the onset of type two diabetes and diabetic kidney disease.
So, in other words, this rare mutation was found to be a direct genetic link that can explain why some families are more likely to suffer from diabetes and kidney failure.
Pixel-Shot – stock.adobe.com – illustrative purpose only, not the actual person
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With these findings, the researchers have also estimated that about one in every fifty-seven thousand people carries this gene mutation.
“What’s most exciting is that this finding allows us to confirm decades of research in animals. The biological effects of adiponectin in regulating insulin sensitivity, glucose tolerance, and ceramide levels are well established in mice, and the current study shows that a loss of adiponectin impairs metabolic health in humans,” explained William Holland, one of the study’s corresponding authors.
Now, the researchers hope their discovery could open new avenues of early intervention and treatment options for affected patients.
“We can use these findings as a starting point for the development of personalized medicines that mimic the beneficial effects of adiponectin and diminishes the risk of diabetes and kidney disease,” underscored Holland.
To read the study’s complete findings, visit the link here.
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