Chennai: A recent study has found that the skin can predict issues unrelated to it.
A team of researchers from Thomas Jefferson University, have published the findings in the journal Scientific Reports.
Led by Jouni Uitto, professor of dermatology and cutaneous biology, the team reported that mutations in a gene known to underlie a rare skin disorder also lead to a serious heart disease.
The findings are the latest example from Uitto’s laboratory to 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’, Uitto said. ‘This is predictive personalised medicine at its best”.
Over the last five years, Uitto and his team have analysed 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, co-first authors Hassan Vahidnezhad and Leila Youssefian, and a small cadre of researchers scrutinised 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).
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
Although the young boy did not yet have heart problems, the genetic findings suggest that he will develop them down the road.