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. 2023 May 5;146(10):4217–4232. doi: 10.1093/brain/awad148

Figure 5.

Figure 5

ChP mis-splicing alters transporters and ion channels. Neurologically unaffected (CTL) versus myotonic dystrophy type 1 (DM1) LVChP transcriptomic analysis of alternative splicing (AS) and differential expression (DE) was screened for either ‘ion channel’ or ‘transporter’ candidates. (A) CLCN3 was identified as a top ion channel candidate by RNA-seq (left) and validated (right) by RT-PCR gel (representative) and analysis (bar graph) of CLCN3 exon 13 (e13) AS in DM1 versus CTL and Alzheimer’s disease (AD) LVChP. (B) TMEM63B was also identified from RNA-seq and validated by RT-PCR for AS of exon 6. (C) SCARB1 was identified as a top transporter candidate and RNA-seq revealed SCARB1 exon 12 AS for DM1 versus CTL and AD LVChP. (D) Another transporter, SLC14A1, exhibited increased DE in DM1 versus CTL patients’ ChP. ***P < 0.001, ****P < 0.0001, one-way ANOVA or unpaired t-test. LVChP = lateral ventricle choroid plexus.