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Functional Characterization of the Disease-Associated N-Terminal Complement Factor H Mutation W198R.

Front Immunol. 2017-01; 
CserhalmiMarcell, UzonyiBarbara, MerleNicolas S, CsukaDorottya, MeusburgerEdgar, LhottaKarl, ProhászkaZoltán, JózsiMih
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Codon Optimization … Codon-optimized FH CCPs 1–4 fragment (FH1–4) (49) was generated by commercial gene synthesis (GenScript, Piscataway, NJ, USA) and cloned into the pBSV-8His Baculovirus expression vector using PstI and SmaI enzymes, as previously described (50) … Get A Quote

摘要

Dysregulation of the complement alternative pathway is involved in the pathogenesis of several diseases, including the kidney diseases atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). In a patient, initially diagnosed with chronic glomerulonephritis, possibly C3G, and who 6 years later had an episode of aHUS, a heterozygous missense mutation leading to a tryptophan to arginine exchange (W198R) in the factor H (FH) complement control protein (CCP) 3 domain has previously been identified. The aim of this study was to clarify the functional relevance of this mutation. To this end, wild-type (FH1-4) and mutant (FH1-4) CCPs 1-4 of FH were expressed as recombinant proteins. The FH1... More

关键词

C3 glomerulopathy,atypical hemolytic uremic syndrome,complement dysregulation,factor H,kidney disease,muta