Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.

There was decreased expression of glucose metabolism genes including phosphoglucomutase-2 like 1 ( PGM2L1 −1.62), which controls the rate of glycolytic flux, and phosphoglycerate kinase ( PGK1 −1.74), which catalyses the first ATP producing step of glycolysis, although Q-PCR validation of PGK1 did not reach statistical significance ( P = 0.12) (Figure 3 ).

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Of those transcripts differentially expressed in SALS fibroblasts, there were a large number of genes involved in transcription, signalling, metabolism and RNA processing (Table 1 ) and this was supported by analysis in DAVID, which demonstrated a highly significant enrichment of biological processes involving ‘transcription’, several ‘regulation of transcription’ related GO terms including ‘regulation of gene expression, epigenetic’ and ‘glucose homeostasis’ (Table 2 ).

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