Fig. 2

Close up of a crista of a mitochondria showing the processes affected by the discussed mitochondrial diseases. Red text indicates mutations have been found in the particular gene that can cause mitochondrial disease. FXN, Frataxin, mutations result in Friedrich ataxia; SDO, sulfur dioxygenase, mutations result in ethylmalonic encephalomyopathy; TP, thymidine phosphorylase, mutations result in mitochondrial neurogastrointestinal encephalopathy (MNGIE); TK2, thymidine kinase, mutations result in TK2 deficiency; Taffazin mutations result in Barth syndrome; NDUFS4, NDUFS3, and SURF1, mutations can result in Leigh syndrome; MT-ND4, NADH dehydrogenase subunit 4, mutations result in Leber hereditary optic neuropathy (LHON); MPV17, mutations can cause a mtDNA depletion syndrome; SLC25A46, mutations can result in mitochondrial disease. IMS, intermembrane space. ER, endoplasmic reticulum. Protein structures for FXN, SDO, MFN2, OPA1, Taffazin, and TP are from the RCSB Protein Databank (rcsb.org)  [149]. Created with BioRender.com