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. Author manuscript; available in PMC: 2021 Sep 22.
Published in final edited form as: Nat Metab. 2021 Mar 22;3(3):366–377. doi: 10.1038/s42255-021-00361-3

Figure 4. HSAN1/MacTel linked SPTLC1 p.Cys133Tyr and PHGDH p.Gly228Trp variants elevate deoxySA in RPE.

Figure 4.

(a) Schematic illustrating the synthesis of sphingolipids and deoxysphingolipids from serine and alanine. SPT condenses palmitoyl-CoA (Palm-CoA) with either serine or alanine to generate the canonical or deoxy forms of sphinganine (SA), dihydroceramide (DHCer), and ceramide (Cer). (b) Relative sphinganine (SA, blue), and deoxysphinganine (deoxySA, red) abundance in control iPSC-RPE following removal of serine and glycine from culture media. Each time point represents the mean of triplicate WT samples. Error bars +/− SEM. (c) Relative SA and deoxySA abundance in iPSC-RPE following 2 days in serine and glycine free media between WT and PHGDH p.Gly228Trp iPSC-RPE. Data shown as the mean of at least 8 replicates from three independently derived clones of WT and PHGDH p.Gly228Trp iPSC-RPE. Error bars +/− SEM. deoxySA p=0.014 unpaired two-tailed T-test.*p<0.05. (d) Relative SA and deoxySA abundance in iPSC-RPE derived from 2 control patients and two HSAN1 patients with SPTLC1 p.Cys133Tyr following 2 days in serine and glycine free media. Data represents at least 5 replicates from clones derived from two control patients and two HSAN1 patients. Error bars +/−SEM. deoxySA p=0.0025 unpaired two-tailed T-test. **p<0.01