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. 2024 Jun 17;9(14):e179071. doi: 10.1172/jci.insight.179071

Figure 1. Role of FDXR and genetic characteristics of the FDXR variants identified in the index patients and of the reported patients manifesting with FDXR-related mitochondriopathy (FRM).

Figure 1

(A) Schematic representation of the role of the flavoprotein ferredoxin–NADP(+) reductase (FDXR) as electron acceptor from nicotinamide adenine dinucleotide phosphate (NADPH), and electron donor for ferredoxin proteins (FDX), from where electrons are finally donated to effector Cytochrome P450 (CYP) enzymes associated to the inner mitochondrial membrane. (B) Pedigree of a family in which the 2 daughters are affected by neuropathy and adrenal insufficiency caused by the homozygous c.1309G > C (p.G437R) variant in FDXR. (C) displays the result of Sanger sequencing around the c.139 region for the members of the family in B. (D) reviews the FDXR variants that have been described in patients with FRM as of June 2023, including the novel p.G437R described in the index patients in this manuscript, aligned to the relevant protein domain. Domain annotation is based on a crystallography analysis of the Bos taurus FDXR ortholog (36).