Skin may assist with foreseeing future heart issues

Skin may assist with foreseeing future heart issues


  • Post By : Kumar Jeetendra

  • Source: Thomas Jefferson University

  • Date: 17 Dec,2020

Our skin informs us when we have spent too much time in sunlight or when the dry air of winter has sucked away too much moisture. Now Jefferson researchers find that the skin may also foretell problems unrelated to the protective barrier.

An international group of researchers headed by Jouni Uitto, MD, PhD, a Professor of Dermatology and Cutaneous Biology, report that mutations in a gene known to underlie a rare skin disease also result in a significant heart disease. The findings are the latest example from Dr. Uitto’s lab to demonstrate that when combined with genetic analysis, the skin may help to forecast future health problems.

A renowned skin disease specialist, Dr. Uitto has been on a worldwide search for mutations in families with hereditary skin ailments for three years. Over the last five decades, he and his staff have examined mutations in about 1800 families around the world, trying to find the genetic culprits behind skin conditions such as epidermolysis bullosa (EB). EB is a serious disease which makes the skin extraordinarily delicate. Patients with EB can create blisters and poorly healing wounds in the lightest touch.

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

Jouni Uitto, MD, PhD, Professor of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University

In the new novel, co-first writers Hassan Vahidnezhad and Leila Youssefian, and a small cadre of investigators scrutinized the DNA of over 360 EB patients from all over the world. The study revealed that two patients had the exact same mutation in a gene called JUP.

The patients had shown the very same symptoms in early infancy, such as quite fragile skin, thickened skin on the palms of their hands and soles of their feet, and baldness that extended to the lashes and eyebrows. But now 1 individual was a 2.5-year-old boy that just showed skin anomalies, while another was a 22-year-old girl who also had a heart condition called arrhythmogenic right ventricular cardiomyopathy (ARVC).

“This is a serious disorder that could need a heart transplant if the damage is too severe due to heart failure and life threatening rapid heart rhythms,” says Reginald Ho, MD, a cardiologist in the department of medicine in Sidney Kimmel Medical College, who co-authored the study.

In ARVC, stiff, fibrous tissue displaces healthy heart muscle over time. Because of this, the heart develops strange rhythms and becomes weak. Truly, ARVC is responsible for up to 20 percent of sudden cardiac deaths in people under 30. Many need an implantable defibrillator to handle life-threatening arrhythmias. Mutations in JUP that cause EB may also result in stiffness of the heart muscle, and ARVC.

Even though the young boy didn’t yet have heart issues, the genetic findings indicate he will develop them down the street. “This implies that with mutation analysis, it is possible to call when looking at EB patients at birth, if they’ll have this very severe heart disease later in life,” Dr. Uitto states. “These patients will need to be monitored carefully for heart issues,” he adds.

The findings add to a series of discoveries Dr. Uitto and colleagues have introduced recently in their hunt for the genes that underlie severe skin conditions. In 2019, by way of instance, the researchers found that patients with a skin condition called ichthyosis can create liver problems later in life which are severe enough to require a transplant.

“We are seeking to identify new genes supporting skin ailments such as EB and ichthyosis,” Dr. Uitto states. “By taking a look at patients’ symptoms and family history, we’ve discovered something completely unexpected.

Journal reference:

Vahidnezhad, H., et al. (2020) Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility. Scientific Reports.

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