Fig. 4 | npj Genomic Medicine

Fig. 4

From: Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

Fig. 4

Metabolomic analysis of R, F, and LR fibroblasts. a Lentivirus-based expression of ALDH1L2 in LR fibroblasts restores levels of the enzyme seen in control or parent’s cells (Western blot assay of isolated mitochondria and confocal image of fibroblasts stained with ALDH1L2-specific antibody, St indicates lane with molecular weight standards, VDAC is shown as mitochondrial marker; green fluorescence indicates ALDH1L2; nuclei were co-stained with DAPI). b PCA (principal component analysis, performed with SIMCA Version 15.0.2, Sartorius Stedim Data Analytics AB, Umeå, Sweden) of metabolomic data (total of 516 metabolites) for R, F, and LR fibroblasts (n = 5 biological replicates in each case). c Heat map representation of the metabolite comparison between R, F, and LR cells (performed with Qlucore Omics Explorer v.3.4 software, Qlucore, Lund, Sweden; data were filtered by p value ≤ 0.05). d Schematic depicting the TCA cycle and its connection to carnitine pathway. e, f Levels of Krebs cycle metabolites and carnitine and most acylcarnitine derivatives are similar in F and LR cells but compared to R cells are much lower in both cell lines. Statistically significant differences (n = 5) are highlighted in green (p < 0.05, decreased metabolites), red (p < 0.05, increased metabolites), or light red (p < 0.1, increased metabolites). g Proposed mechanism for the effect of the ALDH1L2 loss

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