Sphingolipid Disorders

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Presentation transcript:

Sphingolipid Disorders 2/23/2019 Sphingolipid Disorders Sphingolipids (phospho- or glycolipids) S General Structure Cer PC Sm GlcCb (neutral GL) S: sphingosine Cer: ceramide Sm: sphinglmyelin PC: phosphocholine Glu: glucose GL: glycolipid Lac: lactose Gb: globoside (two or more sugars plus GalNAc) Gan: ganglioside (contains NANA) Cb: cerebroside (single sugars) LacCer (Gb) Gan Eric Niederhoffer SIU-SOM

b-glucosylceramidase b-galactosylceramidase 2/23/2019 Gangliosidoses neuraminidase (sialidase) Cer Gal Glu NANA GalNAc b Generalized gangliosidosis b-galactosidase GD1 Cer Gal Glu NANA GalNAc b GM1 Cer Gal Glu NANA GalNAc b Tay-Sachs disease b-hexosaminidase A GM2 activator GM2 Cer Gal Glu NANA b Sialidosis neuraminidase (sialidase) SAP-B GM3 Cer Gal Glu b Fabry’s disease a-galactosidase A SAP-B b-galactosidase SAP-B, SAP-C Cer Gal Glu a b NANA: N-acetylneuraminic acid (sialic acid) Cer: ceramide Glu: glucose Gal: galactose GalNAc: N-acetylgalactosamine G: ganglioside D1: dineuraminic acid + Gal-GalNAc-Gal-Glc-Cer M1: neuraminic acid + Gal-GalNAc-Gal-Glc-Cer M2: neuraminic acid + GalNAc-Gal-Glc-Cer M3: neuraminic acid + Gal-Glc-Cer SAP: sphingolipid activator protein (saposin) Cer-Glu-Gal: lactosylceramide Cer-Glu: glucosylceramide S: sphingosine FA: fatty acid Cer-Glu-Gal-Gal-GalNAc: globoside Cer-Glu-Gal-Gal: globotriaosylceramide PC: phosphocholine Cer-PC: sphingomyelin Cer-Gal-SO3H: sulfatide Cer-Gal: galactosylceramide Cer Glu b Sandhoff’s disease b-hexosaminidase A&B b-glucosylceramidase SAP-C Cer Cer Gal Glu GalNAc a b Gaucher’s disease Krabbe’s disease Cerezyme b-galactosylceramidase SAP-A, SAP-C Cer Gal b Cer PC sphingomyelinase S + FA Metachromatic leukodystrophy Niemann-Pick disease arylsulfatase A SAP-B Cer Gal SO3H b

Targeting of Lysosomal Enzymes to Lysosomes 2/23/2019 Targeting of Lysosomal Enzymes to Lysosomes Addition of M6P to lysosomal enzymes Recognition by MPRs M6P independent pathways M6P: mannose-6-phosphate MPR: mannose-6-phosphate receptor

2/23/2019 Review Questions How do you interpret ganglioside names (G, D, M, 1, 2, 3)? What do the different lysosomal enzyme names mean in the context of removing saccharides? Where does ganglioside degradation occur?