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Extracellular Matrix and Glycolipid Disorders

Extracellular Matrix and Glycolipid Disorders. Eric Niederhoffer SIU-SOM. Proteins conjugated to saccharides lacking a serial repeat unit. GP. Protein >> carbohydrate. Proteins conjugated to polysaccharides with serial repeat units. Lysosomal Hydrolases. PG. Carbohydrate >> protein.

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Extracellular Matrix and Glycolipid Disorders

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  1. Extracellular Matrix and Glycolipid Disorders Eric Niederhoffer SIU-SOM Proteins conjugated to saccharides lacking a serial repeat unit GP Protein >> carbohydrate Proteins conjugated to polysaccharides with serial repeat units Lysosomal Hydrolases PG Carbohydrate >> protein Repeat unit HexN and HexUA GAGs (MPs) SL (Cb or Gan) Cer (S + FA) with MS or OS

  2. a-Mannosidase b-N-Acetylhexosaminidases A&B 4-L-Aspartylglycosylamine amidohydrolase b-Mannosidase b-Galactosidase a-Fucosidase Sialidase Oligosaccharidoses a-Mannosidosis GM2 gangliosidosis variant O (Sandhoff-Jatzkewitz disease) Aspartylglycosylaminuria 5 6 4 NANA Gal GlcNAc a b Man b 6 5 3 NANA Gal GlcNAc 4 b a a 7 2 1 Man GlcNAc GlcNAc Asn 5 6 a NANA Gal GlcNAc 4 3 b b 8 b a Man b GlcNAc Fuc 5 6 NANA Gal GlcNAc 4 a b Typical Asn-GlcNAc OS structure b-Mannosidosis GM1 gangliosidosis Fucosidosis Mucolipidosis I (Sialidosis) What’s 1?

  3. b-glucuronidase iduronate sulfatase heparan N-sulfatase a-L-iduronidase Acetyl-CoA: a-glucosaminide acetyltransferase N-acetylgalactosamine sulfatase N-acetylglucosaminidase b-hexosaminidase A,B,S N-acetylgalactose-6-sulfatase N-acetylglucosamine-6-sulfatase b-galactosidase Glycosaminoglycoses(mucopolysaccharidoses) Mucolipodosis VII Sanfilippo’s A Hunter’s Hurler-Scheie Aldurazyme® (laronidase) Sanfilippo’s C Maroteaux-Lamy 2 4 5 GalNAc GlcUA GalNAc DS IdUA a b b b 1 3 OSO3H OSO3H OSO3H 2 7,9 5 9 GlcNAc HS GlcN GlcUA IdUA a a a b 1 6 8 OSO3H OSO3H OSO3H Sandhoff/Tay-Sachs Sanfilippo’s B 11 4 Gal KS Gal GlcNAc GlcNAc b b b b 10 8 OSO3H OSO3H OSO3H Morquio’s A Sanfilippo’s D Morquio’s B

  4. neuraminidase (sialidase) NANA NANA b-galactosidase b b b b Gal GalNAc Gal Cer Glu NANA b b b b Cer Glu Gal GalNAc Gal NANA b-hexosaminidase A GM2 activator b b b Cer Glu Gal GalNAc NANA neuraminidase (sialidase) SAP-B b b Cer Glu Gal a-galactosidase A SAP-B b b b b a Cer Glu Gal Cer Glu Gal Gal b-galactosidase SAP-B, SAP-C b Cer Glu b-hexosaminidase A&B b b b a Cer Glu Gal Gal GalNAc b-glucosylceramidase SAP-C b-galactosylceramidase SAP-A, SAP-C b Cer PC Cer Cer Gal arylsulfatase A SAP-B sphingomyelinase b Cer Gal SO3H S + FA Gangliosidoses Generalized gangliosidosis GD1 GM1 Tay-Sachs disease GM2 Sialidosis GM3 Fabry’s disease Sandhoff’s disease Gaucher’s disease Krabbe’s disease Cerezyme Metachromatic leukodystrophy Niemann-Pick disease

  5. Targeting of Lysosomal Enzymes to Lysosomes Addition of M6P to lysosomal enzymes Recognition by MPRs M6P independent pathways

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