Skin may help to predict future heart problems- Study
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Our skin tells us when we've spent too much time in the sun or when the dry air of winter has sucked away too much moisture. Now Jefferson researchers find that the skin can also foretell issues unrelated to the protective barrier.

An international team of researchers report that mutations in a gene known to underlie a rare skin disorder also lead to a serious heart disease. The findings show that when combined with genetic analysis, the skin may help to predict future medical conditions.

"By looking into the skin of newborns, we can predict the development of a devastating heart disease later in life," researcher says. "This is predictive personalized medicine at its best."

Over the last five years, researchers analyzed mutations in about 1800 families around the world, searching for the genetic culprits behind skin conditions such as epidermolysis bullosa (EB).

In the new publication, researchers scrutinized the DNA of more than 360 EB patients from around the world. In particular, they analyzed DNA isolated from blood samples for sequence variants in a set of 21 genes known to harbor mutations that cause EB. The analysis revealed that two patients had the exact same mutation in a gene known as JUP.

The patients had shown the same symptoms in early infancy, including very fragile skin, thickened skin on the palms of the hands and soles of the feet, and hair loss that extended to the eyebrows and eyelashes. But now one patient was a 2.5-year-old boy who only showed skin anomalies, while the other was a 22-year-old woman who also had a heart condition called arrhythmogenic right ventricular cardiomyopathy (ARVC).

"This is a serious disease that can require a heart transplant if the damage is too severe because of heart failure and life threatening fast heart rhythms," says co-author of the study.

In ARVC, rigid, fibrous tissue displaces healthy heart muscle over time. As a result, the heart develops abnormal rhythms and becomes weak. ARVC patients are vulnerable to heart failure and sudden cardiac death. Indeed, ARVC is responsible for as much as 20 percent of sudden cardiac deaths in those under 30. Many require an implantable defibrillator to manage life-threatening arrhythmias. Mutations in JUP that cause EB can also lead to stiffness of the heart muscle, and ARVC.

Although the young boy did not yet have heart problems, the genetic findings suggest that he will develop them down the road. These patients need to be monitored carefully for heart problems, researcher adds.

Source: https://www.nature.com/articles/s41598-020-78344-9
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