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. 2019 May 2;104(5):784–801. doi: 10.1016/j.ajhg.2019.03.019

Figure 3.

Figure 3

Schematic Representation of Pathogenic Signaling Associated with Disease-Associated Variants

(A) Effect of MIA pathway defects on maturation of NDUFB10 associated with lactic acidosis and cardiomyopathy.

(B) Deficient processing of YME1L1 by MPP upon import to the mitochondrial matrix causes defects in OPA1 cleavage, resulting in mitochondrial fragmentation and atrophy of optic nerves.

(C) Combination of genetic variants weakening AGT peroxisomal targeting and protein folding together lead to inappropriate localization to the mitochondria, causing deficient glycoxylate metabolism, nephrocalcinosis, and renal failure. For each example, top panel indicates wild-type function, and bottom panel illustrates defect associated with mitochondrial import variant. For full description of the variants, see text.