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Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders.

Mitochondrion - 1 Nov 2021

Pellino Giuditta, Faggioli Raffaella, Galuppi Anna, Leon Alberta, Fusco Carlo, Tugnoli Valeria, Suppiej Agnese

Abstract excerpt

Mitofusin (MFN) 2 belongs to the large family of mitochondrial transmembrane GTPases and has a role in dynamic mitochondrial remodeling process governed by fusion and fission. MFN2 pathogenic variants classically cause Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of CMT, but patients with complex and unusual phenotypes involving the central and peripheral nervous system have been...

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PMID: 34600155
DOI: 10.1016/j.mito.2021.09.011

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