Fig. 4: Altered gene expression in iPSC-derived neurons revealed by RNA sequencing. | Cell Death & Disease

Fig. 4: Altered gene expression in iPSC-derived neurons revealed by RNA sequencing.

From: CHCHD2 rescues the mitochondrial dysfunction in iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome

Fig. 4

A A total of 2,843 genes were significantly upregulated, and 1,667 genes were significantly downregulated in MTS-neurons compared to CTRL-neurons (adjusted p < 0.05 and |log2(fold change)| > 1). Top altered genes, including CHCHD2, are labeled. B Top 10 altered biological processes in MTS-neurons compared to CTRL-neurons, identified by Gene Ontology (GO) enrichment analysis (adjusted p < 0.05). C Top 10 altered Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways in MTS-neurons compared to CTRL-neurons (adjusted p < 0.05). D Representative differentially expressed genes involved in mitochondria-related apoptosis. E Western blot analysis of the anti-apoptotic protein BCL-2 and the pro-apoptotic protein BAX in isolated mitochondrial lysates from CTRL- and MTS-neurons. F Western blot analysis of CHCHD2 in isolated mitochondrial lysates from CTRL-, MUT-, and MTS-neurons. G Expression levels of BCL-2 and BAX were quantified and normalized to HSP60 as a loading control. n = 3 independent biological replicates. Data are represented as mean ± SD. Significance was determined by two-tailed unpaired Student’s t test: ns, not significant; **p < 0.01. H CHCHD2 expression levels were quantified and normalized to HSP60 as a loading control. n = 3 independent biological replicates. Data are represented as mean ± SD. Significance was determined by one-way ANOVA with Tukey’s post hoc test: **p < 0.01; ****p < 0.0001.

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