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Fig. 5

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ZDB-FIG-240904-36

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Zelina et al., 2024 - ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons

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Fig. 5

C21ORF2-V58L mutant phenotypes are rescued in isogenic control cultures. A–G Functional analysis of iPSC-derived motor neuron (MN) cultures at days in vitro 25 (DIV25, 7 days after plating). C1, healthy control; P1, ALS patient with C21ORF2-V58L mutation; iso, isogenic control 1 generated from P1. A Co-immunostaining for cleaved-Caspase-3 (cCAS3) and CHAT in control, mutant and isogenic cultures. B Quantification experiments as in A. Data from 3 independent experiments per line were quantified. C Representative kinetics graphs of mitochondrial oxygen consumption rate. Quantification of maximum respiration (D) and spare respiratory capacity (E). Raw data from 3 independent experiments and at least 3 replicates per line were quantified. F, G Co-immunostaining for CHAT, DAPI and yH2AX, a marker of the DNA damage response, after 1 h of neocarzinostatin (NCS) treatment. G Quantification of yH2AX staining intensity in MN nuclei after NCS treatment. Data from 3 independent experiments per line were quantified. Results of three independent experiments are plotted as means with SEM *p < 0.05; ****p < 0.0001. B, D, E, G Kruskal–Wallis test, Dunn’s multiple comparison post-hoc test. Scale bars: A, 100 µm; F, 5 µm

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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