Table 1. The main results of the studies on autophagy in LSDs.
| Disease | AV accumulation† | Defective AV degradation‡ | Increased AV formation° | Increased poly-ub proteins¶ | Increased dysfunctional mitochondria§ | Increased p62• | Refs. |
|---|---|---|---|---|---|---|---|
|
GLYCOGENOSES |
|
|
|
|
|
|
|
|
Pompe disease |
Y |
Y |
Y |
Y |
NT |
Y |
11,12 |
|
Danon disease |
Y |
Y |
NT |
NT |
NT |
NT |
13 |
|
MUCOPOLYSACCHARIDOSES |
|
|
|
|
|
|
|
|
MSD |
Y |
Y |
N |
Y |
Y |
Y |
14,15 |
|
MPSIII A |
Y |
Y |
N |
Y |
Y |
Y |
14,15 |
|
MPS VI |
Y |
Y |
NT |
Y |
Y |
Y |
16 |
|
SPHINGOLIPIDOSES |
|
|
|
|
|
|
|
|
NPC1, NPC2 |
Y |
Y |
Y |
Y |
Y |
Y |
17,18 |
|
Gaucher disease |
Y |
NT |
NT |
NT |
NT |
Y |
19 |
|
Fabry disease |
Y |
Y |
NT |
Y |
NT |
Y |
20 |
|
GM1 gangliosidosis |
Y |
NT |
Y |
NT |
Y |
NT |
21 |
|
MUCOLIPIDOSES |
|
|
|
|
|
|
|
|
MLII |
Y |
NT |
N |
Y |
Y |
Y |
22 |
|
MLIII |
Y |
NT |
N |
Y |
Y |
Y |
22,23 |
|
MLIV |
Y |
Y |
Y |
Y |
Y |
Y |
24–26 |
|
CEROID LIPOFUSCINOSES |
|
|
|
|
|
|
|
|
CLN10 |
Y |
NT |
NT |
NT |
NT |
NT |
27 |
| CLN 3 | Y | NT | Y | NT | NT | NT | 28 |
†Number of autophagic vesicles (AV) quantified by electron microcopy or LC3-immunofluorescence, amounts of LC3-II by western blotting. ‡Impaired autophagosome-lysosome fusion, defective degradation of long-lived proteins. °MTOR downregulation, BECN1 activation ¶Poly-ubiquitinated proteins (poly-ub) revealed by immunofluorescence or western blotting using anti-ubiquitin antibodies. §Dysfunctional mitochondria revealed by western blotting using mitochondrial markers. •p62/SQSTM1 protein revealed by immunofluorescence or western blotting using anti-p62 antibodies.