Mitochondrial bioenergetics of TFP/LCHAD deficiency human fibroblasts evaluated by Seahorse XFe96 Extracellular Flux Analyzer

Published: 27 February 2023| Version 1 | DOI: 10.17632/8jch3rtcb2.1
Eduardo Vieira Neto,


Evaluation of mitochondrial bioenergetics of cultured fibroblasts from TFP/LCHAD deficiency patients in a Seahorse XFe96 Extracellular Flux Analyzer


Steps to reproduce

Previously described protocols were followed: (1) Seminotti, B., Leipnitz, G., Karunanidhi, A., Kochersperger, C., Roginskaya, V.Y., Basu, S., Wang, Y., Wipf, P., Van Houten, B., Mohsen, A.W., and Vockley, J. (2019). Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers. Hum Mol Genet 28, 928-941. 10.1093/hmg/ddy403. (2) Leipnitz, G., Mohsen, A.W., Karunanidhi, A., Seminotti, B., Roginskaya, V.Y., Markantone, D.M., Grings, M., Mihalik, S.J., Wipf, P., Van Houten, B., and Vockley, J. (2018). Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency. Sci Rep 8, 1165. 10.1038/s41598-018-19543-3. (3) Dobrowolski, S.F., Alodaib, A., Karunanidhi, A., Basu, S., Holecko, M., Lichter-Konecki, U., Pappan, K.L., and Vockley, J. (2020). Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case. Mol Genet Metab 129, 272-277. 10.1016/j.ymgme.2020.01.005.


University of Pittsburgh


Inborn Error of Metabolism, Mitochondrial Function, Fatty Acid Oxidation


Children's Neuroscience Institute