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

Table 6 Complement system in human MLIV tissue and in Mcoln1^−/− mouse brain

Protein	CB	CRB	CSF	Mcoln1^−/− versus Mcoln1^±
Protein	Ratio (MLIV/control)			Fold-change
C1QA¹	+	n.d	+	2.73^*
C1QB	+	4.84	13.8	2.47^*
C1QC	+	2.71	2.85	2.45^*
C4A	+	+	+	2.82
C3	0.4	0.36	1.88	3.09^*
C1QBP	1.56	1.77	1.24	1.00
CD59	1.93	1.85	1.33	1.00
CFB	−	0.15	n.d	n.d
CFH	−	0.31	−	n.d

12 proteins were detected in human brain (with 10 having > 1 peptide). See Table 1 for explanation of the symbols. Fold-change in RNA expression by RNAseq is shown for the same genes (by orthologous conversion) in Mcoln1^−/− versus Mcoln1 + ^−/− mice. ^*, p < 0.05
¹ Only one peptide was identified for this protein

ISSN: 1750-1172