Global proteomics and affinity mass spectrometry analysis of human Schwann cells indicates that variation in and loss of neurofibromin (NF1) alters protein expression and cellular and mitochondrial metabolism.

Following Ingenuity Pathway analysis (IPA) we found multiple pathways were altered including decreases in “oxidative phosphorylation,” increases in “mitochondrial dysfunction”, and “glycolysis”, as well as changes in “Myelination Signaling Pathway.” When we evaluated the proteome of NF1 null cells stably transfected with tagged m Nf1 cDNAs we again identified an overall trend of metabolic differences pertaining to “oxidative phosphorylation”, “mitochondria dysfunction”, and “glycolysis” in the variant cDNA expressing cells.

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LAMC1 (involved in myelination signaling) showed no significant differences in the global proteomics analysis for any of the variant cDNA expressing cell lines but showed a trend of being increased in the R1276Q, delM992, and R1809C cDNA expressing cell lines.

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