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. 2018 Apr 19;3(8):e99922. doi: 10.1172/jci.insight.99922

Figure 7. Effect of DHTKD1 splicing mutation on mitochondrial function in primary esophageal fibroblasts.

Figure 7

In silico analysis of c.1897-1G>A (in red and denoted by arrow), showing the aligned reference sequence (Ref, top strand) and variant sequence (Alt, bottom strand) with the predicted alternative splice site (in bold) and resulting truncated (*) DHTKD1 protein sequence (A). Mitochondrial function tests (oxygen consumption rate [OCR]: basal respiration, ATP production, and maximal respiration) from primary esophageal fibroblasts from a normal control (NL; unshaded squares) or individual II.1 from family 808 (eosinophilic esophagitis [EoE; shaded circles] c.1897-1G>A) (B). Data in B are presented as the mean ± SD from 4 cycles per measurement and at least 6 wells for each cell line. **P < 0.05 compared with NL, done via unpaired t tests with Gaussian distribution and 95% confidence interval. Ref, reference; Alt, alternate.