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Article: MFN2 mutations cause severe phenotypes in most patients with…
Article: MFN2 mutations cause severe phenotypes in most patients with CMT2A
MFN2 Gene Function
Located in mitochondrial outer membrane
Mitochondrial network maintenance
Encodes Mitofusin 2 protein
Axonal transport of mitochondria
Clinical Phenotypes severity
Early onset (childhood/ adolescence)
Rapid progression
Most patients show severe symptoms
Mutation in MFN2
Impaired mitochondrial fusion
Fragmented mitochondria
Genetic mutations disrupt MFN2 function
Reduced energy production
Common Symptoms
Muscle atrophy
Difficulty walking
Muscle weakness
Loss of reflexes
Additional Features ( in some patients)
Central nervous system involvement
More complex neurological symptoms
Optic atrophy
Phenotypic Variability
Wide range of severity
Variability depends on type of MFN2 mutation
Variability depends on genetic background
Key Finding of the Study
Most MFN2 mutations are associated with severe disease
Not just mild neuropathy often disabling condition
Implications
Important for Prognosis (expectations of severity)
Suggests the need for therapies targeting mitochondrial function
Important for diagnosis ( genetic testing for MFN2)