Scientists from the Intercollegiate Faculty of Biotechnology of the University of Gdańsk and the Medical University of Gdańsk published their research paper in the prestigious “Journal of Allergy and Clinical Immunology”.

The paper “Gain-of-function mutation in complement C2 protein identified in patient with aHUS” concerns the etiology of ultra-rare kidney disease conditioned by irregularities in the regulation of the complement system, atypical hemolytic uremic syndrome (aHUS). The current state of knowledge assumed that its cause are mutations in the alternative pathway proteins of the complement system. Their analysis was limited to routine genetic diagnostics of patients.

Authors: Aleksandra Urban, Anna Felberg, Dr Grzegorz Stasiłojć and Dr Marcin Okrój, Prof. of Medical University of Gdańsk analyzed the DNA sequences of all genes coding for complement proteins in 233 patients and detected a mutation of the C2 pathway protein classic which has not yet been described.
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