Detection Method:Sandwich
Test principle:This assay employs a two-site sandwich ELISA to quantitate LIPA in samples. An antibody specific for LIPA has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and anyLIPA present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for LIPA is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of LIPA bound in the initial step. The color development is stopped and the intensity of the color is measured.
Product Overview:Lysosomal acid lipase (LIPA, or LAL), otherwise known as acid cholesteryl ester hydrolase, is coded for by a gene (LIPA) on chromosome 10. Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the LIPA gene.
Aslanidis et al. (1996) provided evidence that a strikingly more severe course of Wolman disease is caused by genetic defects of LAL that leave no residual enzyme activity. In a CESD patient, a G-to-A transition at position -1 of the exon 8 splice donor site resulted in skipping of exon 8 in 97% of the mRNA originating from this allele, while 3% was spliced correctly, resulting in full-length LAL enzyme.
