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Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.

R Del Bo¹, M Moggio, M Rango

¹Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.

|October 24, 2008

Summary

A novel Mitofusin 2 (MFN2) mutation (R104W) causes Charcot-Marie-Tooth disease (CMT2) with cognitive and visual impairments. This MFN2 mutation affects brain energy metabolism, highlighting similarities to primary mitochondrial disorders.

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Area of Science:

Neurogenetics
Mitochondrial Biology
Neurology

Background:

Charcot-Marie-Tooth disease (CMT2) is a heterogeneous axonal neuropathy.
Mutations in the Mitofusin 2 (MFN2) gene are a common cause of CMT2.
MFN2 mutations can lead to complex phenotypes, including hereditary motor and sensory neuropathy V (HSMN V) and VI (HMSN VI).

Observation:

A novel MFN2 missense mutation, R104W, was identified in an Italian family.
Affected individuals presented with peripheral neuropathy, cognitive impairment, and visual disturbances.
One patient also exhibited spastic paraparesis, indicating central nervous system involvement.

Findings:

The R104W mutation is located in the MFN2 GTPase domain, affecting a conserved amino acid.
Sural nerve biopsies revealed normal mitochondrial networks.
Magnetic resonance spectroscopy (MRS) showed impaired high-energy phosphates (HEPs) in the visual cortex of affected individuals.

Implications:

Cognitive impairment is a potential feature of MFN2-related CMT2.
The study highlights the widespread peripheral and central nervous system involvement in MFN2 disorders.
MFN2-related neuropathies share similarities with primary mitochondrial disorders, suggesting a common pathogenic mechanism.