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Fig. 4 | Human Genomics

Fig. 4

From: Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

Fig. 4

Platelet oxygen consumption rates. A Representative profiles of oxygen consumption rate (OCR) of platelets (2.5 × 107 cells/well) isolated from blood samples. OCR was measured in a Seahorse XFe24 extracellular flux analyzer before and after the sequential addition of oligomycin (Oligo, final concentration 2.5 μM), FCCP (final concentrations 0.5 and 1 μM) and antimycin A plus rotenone (AA/Rot, final concentrations 2.5 μM/2.5 μM). All data were normalized to cell number. B Respiratory parameters and non-mitochondrial oxygen consumption rate were determined from the graph described above. C Coupling efficiency was the ratio between ATP-dependent and basal respiration rates. D Respiratory control ratio (RCR) was calculated as the ratio between maximum and ATP-independent respiration. Values are shown for the patient (SPATA5, green), female control subjects, 18 (dark purple) and 20 years old (light purple). Results are the mean ± SD. One-way ANOVA and Tukey post hoc tests were performed, *p < 0.05, **p < 0.01, ***p < 0.0001

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Human Genomics

ISSN: 1479-7364