Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

We obtained accesses to brain tissue and cerebrospinal fluid (CSF) from the only available post- mortem mucolipidosis type IV (MLIV) patient which became available only recently. We performed mass spectrometry (MS)- based proteomics. Our data demonstrate that pathological players detected in Mcoln1-/- mice are also relevant in the human disease. Moreover, we suggest some previously un-known pathological players. We complement this study by using Mcoln1-/- mice, and were able to confirm that many pathological pathways are evident early in disease development, emphasizing the need for early therapeutic intervention. Overall design: We performed mass spectrometry (MS)- based proteomics on MLIV and control samples. Moerover, we performed RNAseq on Mcon1 mice, a model for MLIV.