All Cells Are Coated with Glycans Glycocalyx Cytoplasm Nucleus Plasma Membrane ~50 nm Endothelial Cell Glycocalyx Audrey M. Glauert and G.M.W. Cook Human lymphocyte Broekhuizen et al (2009) Curr Opin in Lipidol 20:57 B. van den Berg
Symbol Nomenclature for Glycans
Mucopolysaccharidoses Prevalence: 1:25,000 Lysosomal storage of glycosaminoglycans, organomegaly Many clinical features, variation in clinical onset, severity and progression Coarse facial features, short stature Neurological complications, enlarged or diseased heart valves, recurring respiratory infections Early mortality
Non-Reducing End Biomarkers NS 6S 2S MPS VII Sly MPS IIIA Sanfilippo MPS IIIC MPS II Hunter MPS I Hurler MPS IIID MPS IIIB -Glucuronidase Sulfamidase N-Acetyl Transferase 6-sulfatase -L-iduronidase Uronate 2-O-sulfatase -N-acetyl glucosaminidase
Bootcamp Groups Groups (4) Samples (8) A Sun-Mi Taryn 1) Heart – Wildtype 2) Heart – MPS3a-/- B So-young Raquel 3) Brain – Wildtype 4) Brain – MPS3a-/- C Philip Patricia 5) Heart – Wildtype 6) Heart – MPS3a-/- D Ryan Henry Joanna 7) Brain – Wildtype 8) Brain – MPS3a-/-