A genetic screening of the alternative complement pathway
revealed a heterozygous mutation in complement factor I (CFI) gene c.148C>G (p.(Pro50AIa)), associated with a heterozygous variant of membrane cofactor protein CD46 (c-366A) and a homozygote deletion of complement factor H (CFH) related protein CFHR1 and CFHR3 genes.
The proteins C3, ASP, and adipsin are all components of the complement system; in particular, the alternative complement pathway
. Complement factors are generated and regulated in adipose tissue and play roles in metabolic events and the inflammatory response (6, 15).
In a similar report an 8-year-old boy was diagnosed with DDD with signs of activation of the alternative complement pathway
(low C3, normal C4, genetics of CFH, CFI and MCP normal, and anti-CFH negative) and positivity of C3Nef .
The alternative complement pathway
activity may depend on plasma malondialdehyde level in systemic lupus erythematosus patients: Preliminary results.
The presence of significant immunoglobulin staining is associated with an immune complex etiology whereas dominant staining for C3 with little or no immunoglobulin is more indicative of abnormal activation of the alternative complement pathway
Development and application of an enzyme-linked immunosorbent assay for the quantitation of alternative complement pathway
activation in human serum.
In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway
have provided an update on the terminology, classification, and treatment of the disease.
The hemolytic complement activity was measured using the alternative complement pathway
(ACP50) according to Biller-Takahashi et al.
The evidence pointed to a highly conserved part of the innate immune system, called the alternative complement pathway
. It is this pathway, says Dr Connor, that is responsible for identifying and targeting the abnormal vessels for removal while leaving healthy blood vessels intact, and could provide new targets for therapies.