Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Authors: Zuchner, S  De Jonghe, P  Jordanova, A  Claeys, KG  Guergueltcheva, V  Cherninkova, S  Hamilton, SR  Van Stavern, G  Krajewski, KM  Stajich, J  Tournev, I  Verhoeven, K  Langerhorst, CT  De Visser, M  Baas, F  Bird, T  Timmerman, V  Shy, M  Vance, JM 
Citation: Zuchner S, etal., Ann Neurol. 2006 Feb;59(2):276-81.
Pubmed: (View Article at PubMed) PMID:16437557
DOI: Full-text: DOI:10.1002/ana.20797

OBJECTIVE: Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI). Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has remained elusive. METHODS: Here, we describe six HMSN VI families with a subacute onset of optic atrophy and subsequent slow recovery of visual acuity in 60% of the patients. Detailed clinical and genetic studies were performed. RESULTS: In each pedigree, we identified a unique mutation in the gene mitofusin 2 (MFN2). In three families, the MFN2 mutation occurred de novo; in two families the mutation was subsequently transmitted from father to son indicating autosomal dominant inheritance. INTERPRETATION: MFN2 is a mitochondrial membrane protein that was recently reported to cause axonal CMT type 2A. It is intriguing that MFN2 shows functional overlap with optic atrophy 1 (OPA1), the protein underlying the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidative phosphorylation components as seen in Leber's hereditary optic atrophy. We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.

Annotation

Disease Annotations
Phenotype Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 1601409
Created: 2007-04-19
Species: All species
Last Modified: 2007-04-19
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.