PCOLCE expression levels are down-regulated in OPMD patients and in a muscle cell model system. A. Plot shows expression levels of PCOLCE in biopsies from pre-symptomatic muscle that carry expPABPN1 but show no disease symptoms (N = 4) and OPMD symptomatic samples (N = 5). Fold change was calculated by reference to age-matched controls (N = 19). Only in the symptomatic group PCOLCE is significantly deregulated (*p < 0.05). B. RT-qPCR analysis of Pcolce mRNA levels in TA muscles of wild-type (FVB) and A17.1 OPMD model mice at 26-weeks of age. Fold change was calculated after normalisation to the Hprt housekeeping gene. Average scores are from 6 mice. Asterisk indicates significant decline (*p < 0.05). C. Pcolce levels in myotube cultures expressing expPABPN1-FLAG (Ala17) at a level similar to endogenous Pabpn1. (i) RT-qPCR analysis of Pcolce mRNA expression in myotube cultures of IM2 parental and Ala17 transgene containing cells. Fold change was calculated after normalisation to the Hprt housekeeping gene mRNA. Variations between fusion efficiencies were eliminated after normalisation to expression levels from the muscle specific actin (Acta1) gene. Averages are from 3 biological replicates. Asterisk indicates significant decline (*p < 0.05). (ii) Western blot analysis of soluble protein extracts from unfused (-) and 4-day fused (+) IM2 and Ala17 cultures. The blot was incubated with anti-Pcolce antibody. Human PABPN1 is detected with an anti-FLAG antibody, the ACTA1 (MSA) protein is a marker for myotube differentiation and tubulin is used as a loading control.