A rare skin disease caused by a genetic mutation is exacerbated by the presence of two Staphylococcal bacteria commonly found on human skin, UC San Diego School of Medicine researchers said in a report published Tuesday.

People with Netherton sydrome often have hair anomalies, scaling skin and immune system problems. Infants born with the hereditary disease often have a bright red hue to their skin, and are more prone to the inflammatory skin disorder known as eczema. The report from UCSD School of Medicine pinpoints the bacteria — one of which was previously believed to offer protective benefits — which cause bouts of inflammation, making a possible first step toward treating the disease.

Dr. Richard Gallo, senior author of the report and chair of UCSD’s Department of Dermatology, said the presence of bacteria on the skin impacts symptoms of Netherton syndrome.

“Our study shows how closely tied the human genome is to the genetic information in our skin microbiome. This rare disease is due to a mutation in a human gene. But, in adults, the symptoms of the disease are driven by the skin microbiome,” he said. “The two genomes work closely together. When one is off, even by a single gene, the other genome reacts.”

The two bacteria in the study, Staphylococcus aureus and Staphylococcus epidermidis, are perceived as wildly different in terms of impact on the body. S. aureus is pathogenic, and can become resistant to antibiotics, becoming methicillin-resistant Staphylococcus aureus or MRSA, one of the leading causes of death from infection in the U.S.

The other, S. epidermidis, is very common and usually assumed harmless. In fact, Gallo found in a previous study the bacteria seems to have protective qualities, secreting a chemical which kills cancer cells while leaving normal cells alone.

“This is a major breakthrough for these patients as it describes how we can treat a human genetic mutation by targeting the microbiome,” said Gallo, who is also a faculty member in the Center for Microbiome Innovation at UCSD. “Altering bacterial gene expression is much easier than trying to fix a mutation in humans.”

According to the National Institutes of Health, most people with this recessive inherited genetic disorder have immune system-related problems, such as food allergies, hay fever and asthma. It is estimated that 1 in 200,000 newborns are affected.

Leave a comment

Your email address will not be published. Required fields are marked *