Glucose stimulation induces proteins involved in energy production and protein folding in Ftsj1-deficient hepatocytes.
Mutations in FTSJ1 are a rare but severe cause of non-syndromic intellectual disability (NSID). FTSJ1 encodes a tRNA 2'-O-methyltransferase specific for the anticodon loop of a subset of tRNAs and is expressed in all investigated tissues in mouse and human. Previous characterization of an Ftsj1-deficient mouse model provided evidence that also non-neuronal tissues such as the liver are affected by Ftsj1-deficiency, as e.g. suggested by altered glucose metabolism in these mice. Here, we investigated isolated untreated, glucose starved or glucose stimulated hepatocytes from wild-type and Ftsj1-deficient mice. Our findings show profound and specific effects in these cells at the protein level despite comparatively minor differences at the level of gene expression.