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A mutation in factor I that is strongly associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation
Lunds universitet.
Clinical Sciences Lund.
Clinical Sciences Lund.ORCID-id: 0000-0002-9953-2829
Clinical Sciences Lund.
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2007 (Engelska)Ingår i: Molecular Immunology, ISSN 0161-5890, E-ISSN 1872-9142, Vol. 44, nr 1-3, s. 221-221Artikel i tidskrift, Meeting abstract (Övrigt vetenskapligt) Published
Abstract [en]

Factor I (FI) is the major complement inhibitor that degrades C3b and C4b in the presence of cofactors C4b binding protein (C4BP), factor H (FH), membrane cofactor protein (MCP) or complement receptor 1 (CR1). Recently, mutations and polymorphisms in complement regulator molecules FH and MCP but also in FI have been associated with atypical hemolytic uremic syndrome (aHUS). HUS is a disorder characterized by hemolytic anemia, thrombocytopenia and acute renal failure. In this study we report three unrelated patients with an identical heterozygous mutation, G261D, in FI heavy chain who developed severe aHUS at different time points in their lives. Two patients also have polymorphisms in FH previously associated with risk of developing aHUS. Testing in particular one patient and control serum samples we did not observe major differences in complement hemolytic activity, FI plasma levels or the capability to degrade C4b or C3b. A recombinant protein was produced in order to analyze the functional consequences of the mutation. Mutant FI had a slightly different migration pattern during electrophoresis under reducing conditions. An alteration due to alternative splicing or glycosylation was ruled out, thus the altered migration may be due to proximity of the mutation to a cysteine residue. The recombinant mutant FI degraded C3b and C4b in a manner comparable to wild type protein. In conclusion, despite the strong association between the heterozygous mutation in FI and aHUS we did not observe any abnormalities in the function of FI regarding complement regulation.

Ort, förlag, år, upplaga, sidor
2007. Vol. 44, nr 1-3, s. 221-221
Nationell ämneskategori
Cell- och molekylärbiologi
Identifikatorer
URN: urn:nbn:se:hkr:diva-12659DOI: 10.1016/j.molimm.2006.07.172ISI: 000241408400184OAI: oai:DiVA.org:hkr-12659DiVA, id: diva2:739755
Konferens
21st International Complement Workshop, OCT 22-26, 2006, Beijing, PEOPLES R CHINA
Tillgänglig från: 2014-08-21 Skapad: 2014-08-21 Senast uppdaterad: 2018-01-11Bibliografiskt granskad

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