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Overview of mechanisms underlying the main mitochondrial peripheral neuropathies. (A) MFN2 is located in the outer mitochondrial membrane and interacts with Miro and Milton proteins, which belong to the molecular complex that links mitochondria to kinesin (KHC) motors. (B) MFN2 participates in bringing the outer membranes of two mitochondria into close proximity. Thus, MFN2 mutations can lead to defects in mitochondrial motility along the cytoskeletal microtubular tracks, and to dysfunction in fusion of the outer mitochondrial membranes of opposing mitochondria. Similarly, mutations in OPA1, which is located in the inner mitochondrial membrane, lead to dysfunction in the fusion process of the inner mitochondrial membrane. (C) Loss-offunction mutations in GDAP1, located in the outer mitochondrial membrane, can lead to dysfunction in the mitochondrial fission process, since GDAP1 Source: Mitochondrial Disorders, Neuromuscular Disorders, 2e might be a positive effector of assembly of the fission mediator DRP1. Dysfunction is shown by red oblique bars. (D) Dysfunctions in the respiratory chain Citation: Amato Direct AA, Russell JA. Neuromuscular 2e; 2015 Available at: http://mhmedical.com/ May 2017 can be due to the following: mutations in mitochondrialDisorders, protein-coding genes (red segment of circular mtDNA)Accessed: ND1, ND4, and15, ND6, which encode Copyright © 2017 McGraw-Hill Education. All rights reserved for subunits of complex I (NADH dehydrogenase), and MTATP6, which encodes for a subunit of complex V (ATP-synthase); mutations in mitochondrial tRNA-coding genes (light blue segment) MTTL1 and MTTK, which lead to dysfunction in transcription of mitochondrial protein-coding genes; or direct mutations in the nuclear gene SURF1 (in green), which encodes an ancillary protein involved in complex IV (cytochrome c oxidase) assembly. Dysfunction