MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives

MNF2-JNS-2015

A new scientific study has been completed by our team. The interesting audit work coordinated by Dr Giulia Stoppia and made by our outstanding research team just got published in the important Journal of the Neurological Sciences. 

“Here, we present the clinical, genetic and neuropathological features of human diseases associated with MFN2 mutations. We also report proposed pathogenic mechanisms through which MFN2 mutations likely contribute to the development of neurodegeneration. MFN2-related disorders may occur more frequently than previously considered, and they may represent a paradigm for the study of the defective mitochondrial dynamics that seem to play a significant role in the molecular and cellular pathogenesis of common neurodegenerative diseases; thus they may also lead to the identification of related therapeutic targets”.

G. Stuppia, et al., MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives, J Neurol Sci (2015)

Another step towards the cure has been completed giving us high hopes.

Read the full article: MNF2 JNS 2015

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