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

Figure 8. OGDHL mutation induces mitochondrial dysfunction.

Figure 8

Schematic of the oxoglutarate dehydrogenase-like (OGDHL) gene locus and location of variants identified in this study; the 2 OGDHL variants identified by whole-exome sequencing (WES) are denoted by dashed arrows (A). Chromatograms from Sanger sequencing validating the seven heterozygous OGDHL variants (B). Mitochondrial function tests (oxygen consumption rate [OCR]: basal respiration, ATP production, and maximal respiration) from primary fibroblasts from a normal control (NL; unshaded squares) or a patient with eosinophilic esophagitis (EoE; shaded circles) with an OGDHL mutation (EoE c.406 cytosine [C] > thymine [T]) (C). Metabolic pathway of dehydrogenase E1 and transketolase domain–containing 1 (DHTKD1) and OGDHL (D). Data in C are presented as the mean ± SD from 4 cycles per measurement and at least 6 wells for each cell line. *P < 0.05 and ***P < 0.01 compared with NL done by unpaired t tests with Gaussian Distribution and 95% confidence interval.