An international team of researchers was able to detect heart problems by conducting genetic analysis. The scientists report that mutations in a gene known to underlie a rare skin disease alsoleads to serious heart disease. The results are the latest example that skin combined with genetic analysis can help predict future diseases.
Detect skin diseases and heart problems
So by looking inside the skin of newborns, scientists can predict the development of devastating heart disease later in life. This is predictive personalized medicine at its best, say the study authors. Over the past five years, the research team has analyzed mutations in about 1,800 families around the world, searching for the genetic culprits of skin diseases such as epidermolysis bullosa (EB). This is a serious condition that leaves areas of skin extremely vulnerable. Patients with such a disease can develop blisters and difficult-to-heal sores at the slightest touch. So the scientists examined the DNA of more than 360 patients with epidermolysis from around the world. Specifically, they analyzed DNA isolated from blood samples for variants in a set of 21 genes. These are known to contain mutations that cause EB. So the analysis showed that two patients had exactly the same mutation in a gene known as plakoglobin.
The patients had shown the same symptoms in early childhood. These included very fragile and thickened skin on the palms and soles of the feet, as well as hair loss, according to the study authors. The latter extended to the eyebrows and eyelashes. One patient was a 2.5-year-old boy who only had skin abnormalities. The other was a 22-year-old woman who also had heart disease. So mutations in plakoglobin that cause EB can also lead to heart muscle stiffness. Although the boy has not yet had heart problems, the genetic findings suggest he will develop them later. This means that mutation analysis, when looking at patients with butterfly disease after birth, can be used to predict whether they will suffer from serious heart disease later in life. In addition, doctors can detect heart problems in these patients and monitor them carefully.
Medical perspectives
The resultsthis studycontribute to a number of discoveries revealed in recent years that underlie serious skin diseases. In 2019, for example, researchers found that patients with a skin condition known as ichthyosis may develop liver problems later in life. These are so serious that a transplant is necessary. Therefore, researchers are looking for new genes for skin diseases such as EB and ichthyosis. By looking at the patients' symptoms and family history, they discovered something so unexpected. Together, these studies show how skin can help predict serious medical problems.
