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Fig. 3 | Lipids in Health and Disease

Fig. 3

From: Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia

Fig. 3

LCAT activity in human plasma and supernatant from transfected HEK-293 T cells. In a upper: lanes correspond to Father (1), Mother (2), Sister (3), Brother (4), Proband (5) and healthy controls (6 and 7). LCAT was detected as glycosylated (66 kDa) and non-glycosylated forms (49.5 kDa). In a bottom: relative LCAT activity is shown in plasma of the proband and her relatives. From left to right bars, they correspond to a healthy control, the proband (compound heterozygous p.V333 M/p.M404 V), Mother (p.V333 M carrier), Sister (p.V333 M carrier), Father (p.M404 V carrier) and Brother (p.M404 V carrier). Plasma from the proband did not show detectable LCAT activity. In b upper: lane 1 corresponds to mock, lane 2 corresponds to transfection with plasmids containing wild-type LCAT sequence, lane 3 corresponds to transfection with plasmids containing the p.V333 M LCAT mutation, and lane 4 corresponds to transfection with plasmids containing the p.M404 V LCAT mutation. The band at 63 kDa corresponds to recombinant LCAT (rLCAT) and 37 kDa to GADPH (control gene). In b bottom: relative LCAT enzyme activity is shown for supernatants from HEK-293 T cultured cells showing that both LCAT mutations showed decreased activity compared to LCAT Wild Type. In the graph, from left to right bars correspond to Wild Type LCAT, p.V333 M LCAT, and p.M404 V LCAT

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Lipids in Health and Disease

ISSN: 1476-511X