학술논문
Novel Functional Assay to Characterize Mutations in Alternative Pathway of Complement.
Document Type
Article
Source
Subject
*MACULAR degeneration
*HEMOLYTIC-uremic syndrome
*GENETIC mutation
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Language
ISSN
0271-9142
Abstract
Purified FB or serial dilutions of serum is mixed with the depleted serum, allowing for APC-mediated hemolysis proportional to the amount of FB in the sample. C5b-9 deposition induced by sialidase treatment in patient serum and NHS correlates with cell killing in the mHam and indicates that APC function is impaired in patient serum. However, in the presence of patient serum, treatment of cells with sialidase did not lead to increased C5b-9 deposition above NHS (0.3% in untreated cells vs 1.85% in sialidase-treated cells). The lack of complement activation due to sialidase in patient serum but intact complement-mediated cell killing with STX-1 suggests the patient's mutation in FB disrupts APC function. [Extracted from the article]