Fig. 3: Effect on FAR1 protein level by treatment of fibroblasts with 1-O-hexadecyl-sn-glycerol (HDG). | Genetics in Medicine

Fig. 3: Effect on FAR1 protein level by treatment of fibroblasts with 1-O-hexadecyl-sn-glycerol (HDG).

From: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Fig. 3

Fibroblasts of control subjects (n = 6) and p.Arg480His/Cys FAR1 patients (P1–P3) were treated for 24 and 48 hours with 10 μM HDG followed by immunoblot analysis for FAR1 and measurement of the plasmalogen levels. Two independent experiments were performed (a indicating the first experiment, b the second), each including three (×2) control cell lines and the three patient cell lines (P1 = square, P2 = circle, P3 = triangle). a Immunoblot analysis of FAR1 in fibroblast homogenates of controls and patients using antibodies against FAR1 (59 kDa) and β-actin as loading control (same blot reprobed). Blots (cropped) of both experiments are shown. b Quantification of the FAR1 protein level as ratio over β-actin in control and patient cells in untreated and HDG-treated cells. Results are shown for each cell line as % of the untreated condition. c C16:0-Plasmalogen levels (expressed as % of total palmitate [C16:0]) in untreated and HDG-treated control and patient cells.

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