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. 2019 Apr 1;28(15):2459–2476. doi: 10.1093/hmg/ddz062

Figure 1.

Figure 1

Targeted sequencing of exon-6 of the TARDBP gene in spinal cord specimens from ALS patients. (A) Chromatogram showing detection of the Q331K mutation in genomic DNA isolated from spinal cord tissue from an ALS patient. (B) Immunoblots probed with TDP-43 antibody and γH2AX antibody show reduced monomeric TDP-43 protein and increased γH2AX in an ALS specimen carrying the Q331K mutation compared to an age-matched control sample. GAPDH served as the loading control. (C) Analysis of DNA integrity by LA-PCR. Representative agarose gel images indicate reduced DNA amplification of OCT3/4, NONOG, Polβ and HPRT gene segments in TDP-43-Q331K spinal cord compared to control. The 200 bp short amplicon served as control.( D) Quantitation of PCR products by Pico Green-based DNA quantitation from triplicate experiments. (E) IHC of spinal cord from an ALS patient carrying a Q331K mutation for TDP-43, γH2AX and TUNEL staining. Representative images acquired at 20× magnification. (F) Quantitation of mean γH2AX signal and mean TUNEL-positive cells per field in ALS spinal cord sample and age-matched controls. **P<0.05; ****P<0.0001.