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Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease

Marques, André R A ; Gabriel, Tanit L ; Aten, Jan ; van Roomen, Cindy P A A ; Ottenhoff, Roelof ; Claessen, Nike ; Alfonso, Pilar ; Irún, Pilar ; Giraldo, Pilar ; Aerts, Johannes M F G ; van Eijk, Marco Dardis, Andrea

PloS one, 2016-01, Vol.11 (1), p.e0147208-e0147208 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease
Autor: Marques, André R A ; Gabriel, Tanit L ; Aten, Jan ; van Roomen, Cindy P A A ; Ottenhoff, Roelof ; Claessen, Nike ; Alfonso, Pilar ; Irún, Pilar ; Giraldo, Pilar ; Aerts, Johannes M F G ; van Eijk, Marco
Dardis, Andrea
Assuntos: Accumulation ; Adult ; Aged ; Aged, 80 and over ; Animal tissues ; Animals ; Biochemistry ; Bioindicators ; Biomarkers ; Biomarkers - metabolism ; Care and treatment ; Cell Line ; Ceramide glucosyltransferase ; Cholesterol ; Cholesterol - metabolism ; Development and progression ; Disease Models, Animal ; Eye Proteins - genetics ; Eye Proteins - metabolism ; Female ; Foam Cells - metabolism ; Glycoproteins ; Glycosaminoglycans ; Glycosphingolipids ; Glycosphingolipids - metabolism ; Humans ; Inborn errors of metabolism ; Laboratories ; Lipids ; Liver ; Lysosomes ; Macrophages ; Male ; Melanoma ; Membrane Glycoproteins - genetics ; Membrane Glycoproteins - metabolism ; Metabolism ; Metabolism, Inborn errors of ; Mice ; Middle Aged ; Mucopolysaccharides ; Niemann-Pick disease ; Niemann-Pick Disease, Type C - genetics ; Niemann-Pick Disease, Type C - metabolism ; Npc1 protein ; Pathology ; Patient outcomes ; Proteins ; Risk factors ; Rodents ; Secretion ; Transcription ; Viscera ; Yang, Cindy ; Young Adult
É parte de: PloS one, 2016-01, Vol.11 (1), p.e0147208-e0147208
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Conceived and designed the experiments: ARAM TLG JMFGA MvE. Performed the experiments: ARAM TLG JA CPAAvR RO NC PI PA PG MvE. Analyzed the data: ARAM TLG JA MvE. Contributed reagents/materials/analysis tools: PI PA PG. Wrote the paper: ARAM TLG JA JMFGA MvE.
Competing Interests: The authors have declared that no competing interests exist.
Descrição: Impaired function of NPC1 or NPC2 lysosomal proteins leads to the intracellular accumulation of unesterified cholesterol, the primary defect underlying Niemann-Pick type C (NPC) disease. In addition, glycosphingolipids (GSLs) accumulate in lysosomes as well. Intralysosomal lipid accumulation triggers the activation of a set of genes, including potential biomarkers. Transcript levels of Gpnmb have been shown to be elevated in various tissues of an NPC mouse model. We speculated that Gpnmb could serve as a marker for visceral lipid accumulation in NPC disease. We report that Gpnmb expression is increased at protein level in macrophages in the viscera of Npc1nih/nih mice. Interestingly, soluble Gpnmb was also found to be increased in murine and NPC patient plasma. Exposure of RAW264.7 macrophages to the NPC-phenotype-inducing drug U18666A also upregulated Gpnmb expression. Inhibition of GSL synthesis with the glucosylceramide synthase (GCS) inhibitor N-butyl-1-deoxynojirimycin prevented U18666A-induced Gpnmb induction and secretion. In summary, we show that Gpnmb is upregulated in NPC mice and patients, most likely due to GSL accumulation.
Editor: United States: Public Library of Science
Idioma: Inglês

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Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease

Marques, André R A ; Gabriel, Tanit L ; Aten, Jan ; van Roomen, Cindy P A A ; Ottenhoff, Roelof ; Claessen, Nike ; Alfonso, Pilar ; Irún, Pilar ; Giraldo, Pilar ; Aerts, Johannes M F G ; van Eijk, Marco Dardis, Andrea

United States: Public Library of Science

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