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

Table 7 IFN signaling in human MLIV tissue and in Mcoln1^−/− mouse brain

Protein	CB	CRB	CSF	Mcoln1^−/− versus Mcoln1^±
Protein	Ratio (MLIV/Con)			Fold Change
IRF9	+	+	n.d	3.11^*
IFIT1	103	102	n.d	5.45^*
IFIT2	+	2.88	n.d	2.67^*
IFIT3	339	159	+	3.91^*
IFIT5	1.82	1.58	n.d	n.d
IFI16	4	n.d	n.d	n.d
ISG15	+	16.62	1764	4.66^*
MX1	+	20.57	16.1	12.1^*
MX2	+	n.d	n.d	3.33^*
OAS2	+	n.d	n.d	7.81^*
GBP1	+	n.d	1.35	n.d
MNDA	+	+	n.d	4.82
STAT1	3.18	3.58	67.1	2.11^*
STAT2	4.45	+	n.d	1.47
BST2	1.74	5.24	n.d	3.45^*
MAVS	−	+	n.d	1.05

19 proteins were detected by MS-based proteomics in human brain (with 18 have more than 1 peptide), of which 16 are higher in MLIV. 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

ISSN: 1750-1172