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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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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

Repeat unit

HexN and HexUA

GAGs

(MPs)

SL

(Cb or

Gan)

Cer (S + FA) with MS or OS

oligosaccharidoses

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?

glycosaminoglycoses mucopolysaccharidoses

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

gangliosidoses

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

targeting of lysosomal enzymes to lysosomes
Targeting of Lysosomal Enzymes to Lysosomes

Addition of M6P to lysosomal enzymes

Recognition by MPRs

M6P independent pathways