NIH Scientists Discover Protein Behind Rare Genetic Skin Disorder — Genome sequencing reveals |
) and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment. Scientists discovered that people with the disorder have an overactive version of a protein called STAT4, which regulates inflammation and wound healing.
Researchers have identified genomic variants in the STAT4 protein, causing a rare skin disorder called disabling pansclerotic morphea. A potential treatment using a JAK-inhibiting drug, ruxolitinib, has shown significant symptom improvement in patients. Credit: Ernesto Del Aguila III, NHGRI The researchers used genome sequencing to study four individuals with disabling pansclerotic morphea and found that all four have genomic variants in thegene encodes a type of protein that helps turn genes on and off, known as a transcription factor. The STAT4 protein not only plays a role in fighting infections but also controls important aspects of wound healing in the skin.
Existing treatments for disabling pansclerotic morphea are designed to halt the progression of the disorder, but previous therapies have been mostly ineffective, often with severe side effects. People with the disorder typically don’t live more than 10 years after their diagnosis.
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