PMID: 8938101Dec 1, 1996Paper

Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred

Clinical Immunology and Immunopathology
L SingerR A Wetsel

Abstract

To determine the molecular basis of complement C3 deficiency in a Laotian kindred, the homozygous C3-deficient male propositus was studied. By ELISA, this individual's serum was determined to contain approximately 4 microg/ml C3 (0.3% of normal). In accord with this result, anti-C3 immunoprecipitation of [35S]-methionine-labeled fibroblasts from this C3D individual revealed pro-C3 of normal size (180,000 Mr), but in significantly reduced amounts (approximately 1% of normal fibroblasts), that was processed and secreted with normal-size alpha- and beta-chains. In addition, C3-specific mRNA of normal size (5.2 kb) but in reduced quantity (approximately 1% of normal) was detected in this individual's fibroblasts by Northern analysis. The nucleotide sequence of the transcriptional initiation site, the promoter, and the IL-1beta/IL-6 cis-regulatory elements of the C3-deficient gene are normal in this C3-deficient individual, indicating that the low C3 mRNA and protein levels are not caused by reduced C3 transcription that is the result of a cis-mutation. Moreover, cDNA sequencing studies revealed no defect in the C3-deficient mRNA, including the areas mutated in four previously characterized C3-deficient patients. These data indicate...Continue Reading

Citations

Oct 6, 2015·The Journal of Allergy and Clinical Immunology·Yuka OkuraTadashi Ariga
Jun 26, 2001·Scandinavian Journal of Immunology·A G UlbrichL Isaac
Jan 31, 2003·Immunogenetics·Klaus WimmersSiriluck Ponsuksili

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