Fig. 5

L168S ELOVL4 variant is deficient in VLC-PUFA synthesis. A Uptake of 20:5n3 after 72 h in HEK293T cells overexpressing WT, L168s and control cells (GFP and UT) supplemented with 20:5n3. B Relative mole% of VLC-PUFA levels normalized to WT ELOVL4 and L168S ELOVL4 protein levels after 20:5n3 supplementation. L168S mutation decreased the synthesis of the major VLC-PUFA 34:5n3 followed by 36:5n3 found in human retina. C Uptake of 34:5n3 after 72 h in HEK293T cells overexpressing WT, L168S and control cells (GFP and UT) supplemented with 34:5n3. D Elongated products of 34:5n3 normalized to WT ELOVL4 and L168S ELOVL4 expression levels. L168S ELOVL4 protein was deficient in catalyzing the addition of two carbons to produce 36:5n3 similar to cells treated with 20:5n3. Results are the mean ± SD (n = 3). Statistical significance was assessed for A, B, C, D by ANOVA with Tukey’s post-hoc test. *p < 0.05; **p < 0.01; ***p < 0.001; ****p < 0.0001; ns not significant in comparison with WT