Moreover, we compared our data with that obtained using a mouse model of MLIV, namely the Mcoln1−/− mouse [9, 10], which further validated that the Mcoln1−/− mouse is a genuine animal model of MLIV, and of more importance, allowed us to identify some novel pathological components and pathways in the human MLIV brain tissue, such as activation of complement and interferon (IFN) pathways and lipid droplet and lipoprotein metabolism. The gene discussed is MCOLN1; the disease is mucolipidosis type IV.