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. 2017 Apr 13;26(12):2207–2217. doi: 10.1093/hmg/ddx110

Figure 4.

Figure 4

(A) Total C-P4H activity was reduced in cultured fibroblasts from P1 and P2 compared to age-matched controls (C1 and C2). Activities in both carrier father (F) and carrier mother (M) were within normal range, although it was at the lower end of the range in the carrier mother. (B) Western blot analysis with α-tubulin loading control. C-P4H α (I) protein is reduced in patients-derived fibroblasts compared to age-matched controls (C1 and C2). There is no up-regulation of C-P4H α (II) protein in cultured fibroblasts from P1, P2 and their parents compared to controls. (C) Ratio of exon 9 versus exon 10 splice form in muscle tissue and cultured dermal fibroblasts from individuals of different ages as determined by RT-PCR followed with Cac8I (specific for exon 9) or BlpI (specific for exon 10) digestion. The exon 9 splice form is the major form expressed in muscle tissue, the average ratio of exon 9/exon 10 is 4.22 (SEM = 0.59) in younger individuals (<4.5 years), the average ratio of exon 9/exon 10 is 2.05 (SEM = 0.09) in older individuals (9 years to adult). The expression levels of exon 9 and exon 10 splice form are relatively equal in dermal fibroblasts at all ages tested (ranges from 8 months to adult, average ratio of exon 9/exon 10 = 0.92, SEM = 0.03).