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Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A
Author(s) -
Ueda Eri,
Ishihara Naotada
Publication year - 2018
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.15252/embr.201846502
Subject(s) - mfn2 , mitochondrial fusion , mitochondrion , biology , neurodegeneration , mitochondrial fission , mitochondrial disease , mechanism (biology) , microbiology and biotechnology , genetics , gene , disease , mitochondrial dna , medicine , pathology , philosophy , epistemology
Mitochondria undergo frequent fusion and fission events, which are essential to maintain a functional mitochondrial network. A disruption of these processes can cause severe neurodegeneration. Charcot–Marie–Tooth disease type 2A (CMT2A) is a neuropathy that is caused by mutations in the fusion factor Mfn2. It is generally assumed that impaired mitochondrial fusion causes CMT2A. However, the detailed molecular mechanism underlying the pathophysiology of CMT 2A is only incompletely understood. In this issue of EMBO Reports , El Fissi et al established a fly model to analyze the consequence of frequently occurring MFN 2 mutations on locomotor behavior, mitochondrial morphology, and function and find that some pathogenic mutants enhance fusion activity, indicating that increased mitochondrial fusion can drive CMT 2A‐like pathology [1][Fissi NE, 2018]. Moreover, this novel assay system will be a useful tool to analyze CMT 2A pathogenesis in vivo .