Study Shows That Hereditary Skin Disorders in Newborns May Help Predict Heart Problems
Researchers from Thomas Jefferson University recently detected a genetic skin disorder in newborn infants that could indicate heart problems in the future.
Epidermolysis bullosa, or EB, is a skin ailment that can make the skin very fragile. Researchers also found it can affect how bruises are formed and the growth of hair.
A specific mutation that is linked to EB is found to be closely associated with a heart condition called arrhythmogenic right ventricular cardiomyopathy, or ARVC. It weakens the heart as time passes by, and can be very dangerous.
Finding Out Inherited Risks
To find out what EB affects people who have the disease, researchers tested 360 patients with EB. In a toddler and a woman in her early twenties, the common point between the two of them is a mutated JUP gene.
Upon further review, the research team realized that both patients had the same EB symptoms during their infancy. Although for the woman, she was diagnosed with ARVC when she grew up. The baby did not experience any heart-related problems.
With the way the JUP gene is known to mutate, the research predicted that if EB patients had the same mutation, then they would likely develop ARVC.
The researchers also hope in the future, with these findings, they can help sort out the patients who would likely develop ARVC in the future and avoid it as early as their infancy stage.
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