A groundbreaking study published in Nature Immunology has identified previously unknown genetic mutations linked to cold urticaria, offering new hope for targeted treatments. Researchers from the University of Helsinki and Harvard Medical School analyzed the DNA of over 1,500 individuals diagnosed with cold allergy, comparing their genomes to those of healthy controls. The study pinpointed mutations in the PLCG2 gene, which plays a crucial role in immune cell signaling, as a significant risk factor.
The PLCG2 gene encodes an enzyme involved in mast cell activation—a key player in allergic reactions. Mutations in this gene cause mast cells to overreact to cold, releasing excessive histamine and other inflammatory chemicals. This discovery helps explain why some people develop hives or even anaphylaxis upon exposure to cold air, water, or objects.
The study also found that these mutations are more common in populations from colder climates, suggesting an evolutionary link. Researchers theorize that these genetic variants may have once provided a survival advantage, perhaps by increasing blood flow in freezing conditions, but now manifest as a hypersensitivity disorder.
This breakthrough opens doors for precision medicine approaches. Biotech companies are already exploring drugs that inhibit PLCG2 activity, with early-stage clinical trials expected by 2025. Until then, experts recommend that patients with severe cold urticaria undergo genetic testing to confirm the mutation and consider personalized treatment plans, such as prophylactic antihistamines or omalizumab (an anti-IgE therapy).
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