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Researchers have identified a gene variant that mitigates the impact of COPA Syndrome, potentially paving the way for innovative gene therapy solutions for this rare but severe genetic condition.
Dr. Anthony Shum, a pulmonologist affiliated with UC San Francisco, has dedicated over 15 years to unraveling the complexities surrounding COPA Syndrome, a genetic disorder that manifests uniquely within affected families. While certain individuals carrying the mutation experience severe episodes of lung bleeding during childhood, others remain completely asymptomatic.
Recently, Shum and his research team discovered that a specific variant of a different gene provides a protective effect against COPA Syndrome. This breakthrough may lead to new therapeutic strategies for a condition that is currently managed primarily through intensive medical care and immunosuppressive medications.
The researchers found that some individuals related to COPA syndrome patients were surprisingly healthy even though they possessed the mutation associated with the disease. This resilience was attributed to the presence of a variant of the gene known as HAQ-STING. When they introduced this protective variant into lung cells affected by COPA, notable improvements were observed.
“We believe that HAQ-STING could serve as a potential gene therapy strategy, representing a significant advancement toward finding a cure,” stated Shum, the principal author of the research published on February 27 in the Journal of Experimental Medicine.
The Underlying Challenges of COPA Syndrome
COPA Syndrome is considered uncommon, possibly impacting only a few thousand individuals across the United States, many of whom remain undiagnosed. The identification of the COPA mutation has galvanized international efforts to increase awareness of the syndrome, deepen understanding of its pathology, and work towards effective treatment options.
In 2020, while investigating the intricacies of the COPA gene, Shum stumbled upon another gene called STING. This gene, crucial for the immune response, malfunctions when COPA is mutated. “STING is essential for combating infections and eliminating viruses. However, in patients with COPA syndrome, it becomes hyperactive, leading to chronic inflammation that ultimately harms the lungs, kidneys, and joints,” Shum explained.
The research team was aware of the existence of a variant known as HAQ-STING, which appears in a significant portion of the population, and hypothesized that it might counteract the adverse effects attributed to the COPA mutation, thereby clarifying the variability observed in family members affected by the syndrome.
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