Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.
Ageing
GBA
Gangliosides
Glycosphingolipid (GSL)
Lysosomal storage disease (LSD)
Parkinson’s disease (PD)
Journal
Glycoconjugate journal
ISSN: 1573-4986
Titre abrégé: Glycoconj J
Pays: United States
ID NLM: 8603310
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
received:
09
06
2021
accepted:
24
09
2021
revised:
22
09
2021
pubmed:
11
11
2021
medline:
7
4
2022
entrez:
10
11
2021
Statut:
ppublish
Résumé
It is well established that lysosomal glucocerebrosidase gene (GBA) variants are a risk factor for Parkinson's disease (PD), with increasing evidence suggesting a loss of function mechanism. One question raised by this genetic association is whether variants of genes involved in other aspects of sphingolipid metabolism are also associated with PD. Recent studies in sporadic PD have identified variants in multiple genes linked to diseases of glycosphingolipid (GSL) metabolism to be associated with PD. GSL biosynthesis is a complex pathway involving the coordinated action of multiple enzymes in the Golgi apparatus. GSL catabolism takes place in the lysosome and is dependent on the action of multiple acid hydrolases specific for certain substrates and glycan linkages. The finding that variants in multiple GSL catabolic genes are over-represented in PD in a heterozygous state highlights the importance of GSLs in the healthy brain and how lipid imbalances and lysosomal dysfunction are associated with normal ageing and neurodegenerative diseases. In this article we will explore the link between lysosomal storage disorders and PD, the GSL changes seen in both normal ageing, lysosomal storage disorders (LSDs) and PD and the mechanisms by which these changes can affect neurodegeneration.
Identifiants
pubmed: 34757540
doi: 10.1007/s10719-021-10023-x
pii: 10.1007/s10719-021-10023-x
pmc: PMC8979855
doi:
Substances chimiques
Glycosphingolipids
0
Glucosylceramidase
EC 3.2.1.45
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
39-53Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : R01 AG060195
Pays : United States
Informations de copyright
© 2021. The Author(s).
Références
Antioxid Redox Signal. 2015 Aug 20;23(6):550-64
pubmed: 26094487
Proc Natl Acad Sci U S A. 1995 May 23;92(11):5087-91
pubmed: 7539142
Exp Neurol. 2020 Jul;329:113284
pubmed: 32165255
Proc Natl Acad Sci U S A. 2020 Aug 11;117(32):18977-18983
pubmed: 32719116
Science. 1997 Sep 12;277(5332):1652-5
pubmed: 9287216
Neurobiol Dis. 2015 Oct;82:495-503
pubmed: 26392287
PLoS One. 2014 May 07;9(5):e97032
pubmed: 24804730
Mol Genet Metab. 2013 Jan;108(1):56-64
pubmed: 23266198
Mov Disord. 2019 Apr;34(4):526-535
pubmed: 30788890
Br J Pharmacol. 2010 Feb 1;159(3):586-603
pubmed: 20067473
Biochemistry. 2007 Feb 20;46(7):1868-77
pubmed: 17253773
Prog Brain Res. 1994;101:XI-XIV
pubmed: 8029441
Autophagy. 2014 May;10(5):750-65
pubmed: 24589479
Neurology. 2012 Feb 7;78(6):417-20
pubmed: 22282650
Sci Rep. 2019 Dec 18;9(1):19330
pubmed: 31852959
Nat Med. 2003 May;9(5):589-95
pubmed: 12669033
Nat Commun. 2021 Mar 22;12(1):1807
pubmed: 33753743
Brain. 2019 Jan 1;143(1):234-248
pubmed: 31755958
Mol Cell Neurosci. 2019 Mar;95:25-30
pubmed: 30611881
Cell Calcium. 2016 Jan;59(1):12-20
pubmed: 26691915
Acta Neuropathol Commun. 2020 Aug 6;8(1):127
pubmed: 32762772
Cell. 2011 Jul 8;146(1):37-52
pubmed: 21700325
Exp Neurol. 2018 Jan;299(Pt A):26-41
pubmed: 28974375
FEBS Lett. 2019 Sep;593(17):2366-2377
pubmed: 31254361
Neuropharmacology. 2014 Feb;77:414-21
pubmed: 24184316
Neuroreport. 2009 May 6;20(7):713-7
pubmed: 19349914
Neuroscience. 2019 Jan 15;397:94-106
pubmed: 30521973
N Engl J Med. 2009 Oct 22;361(17):1651-61
pubmed: 19846850
Proc Natl Acad Sci U S A. 2020 Nov 3;117(44):27646-27654
pubmed: 33060302
Mol Neurodegener. 2019 Nov 8;14(1):40
pubmed: 31703585
J Mol Biol. 2016 Aug 14;428(16):3325-3336
pubmed: 27261254
Neuron. 2020 Mar 4;105(5):822-836.e7
pubmed: 31899072
Nat Neurosci. 2008 Jul;11(7):755-61
pubmed: 18536709
Cell Rep. 2016 Sep 6;16(10):2546-2553
pubmed: 27568557
J Cell Sci. 2018 Dec 17;131(24):
pubmed: 30559216
Mol Brain. 2021 Jan 19;14(1):16
pubmed: 33468204
J Pathol. 2014 Apr;232(5):509-21
pubmed: 24415155
JIMD Rep. 2019 Jun 28;49(1):80-88
pubmed: 31497485
Mov Disord. 2015 Jul;30(8):1085-9
pubmed: 26096906
Neurology. 2013 Apr 23;80(17):1606-10
pubmed: 23535491
J Neurol Sci. 2013 Jan 15;324(1-2):140-8
pubmed: 23199590
IUBMB Life. 2010 May;62(5):347-56
pubmed: 20222015
J Neurosci Res. 2012 Oct;90(10):1997-2008
pubmed: 22714832
J Biol Chem. 2017 Apr 7;292(14):5645-5654
pubmed: 28213516
Mol Brain. 2009 Feb 09;2:5
pubmed: 19203374
Nat Genet. 2006 Oct;38(10):1184-91
pubmed: 16964263
Sci Rep. 2019 Jun 10;9(1):8362
pubmed: 31182727
Int J Mol Sci. 2020 Jan 29;21(3):
pubmed: 32013258
Eur J Neurol. 2019 Jul;26(7):1013-1018
pubmed: 30714262
Adv Exp Med Biol. 2010;688:1-23
pubmed: 20919643
Mov Disord. 2020 Mar;35(3):495-499
pubmed: 31670439
Mov Disord. 2020 Aug;35(8):1346-1356
pubmed: 32557794
Hum Mol Genet. 2014 Feb 1;23(3):730-48
pubmed: 24057669
PLoS One. 2019 Jul 10;14(7):e0212382
pubmed: 31291241
J Neurosci. 2017 Oct 4;37(40):9617-9631
pubmed: 28847804
J Pathol. 2016 Aug;239(4):496-509
pubmed: 27234572
Biomedicines. 2021 Apr 21;9(5):
pubmed: 33919140
Acta Pharmacol Sin. 2021 Apr;42(4):518-528
pubmed: 32724177
PLoS Genet. 2011 Jun;7(6):e1002141
pubmed: 21738487
J Neurol. 2021 Jun;268(6):2055-2064
pubmed: 31701332
Eur J Intern Med. 2006 Nov;17 Suppl:S2-5
pubmed: 17011471
Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):814-8
pubmed: 8570640
Mov Disord. 2013 Feb;28(2):232-236
pubmed: 23225227
Nat Med. 2014 Feb;20(2):204-8
pubmed: 24441827
Exp Gerontol. 2020 Mar;131:110817
pubmed: 31862420
Parkinsonism Relat Disord. 2016 Aug;29:66-71
pubmed: 27245919
NPJ Parkinsons Dis. 2016;2:
pubmed: 27110593
Neurology. 2015 Mar 3;84(9):880-7
pubmed: 25653295
Gene Ther. 2019 Feb;26(1-2):57-64
pubmed: 30531868
Nat Genet. 2004 Nov;36(11):1225-9
pubmed: 15502825
Neurosci Lett. 2019 Jan 23;692:53-63
pubmed: 30391320
Nature. 2014 Jun 5;510(7503):68-75
pubmed: 24899306
QJM. 1996 Sep;89(9):691-4
pubmed: 8917744
Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3537-42
pubmed: 23297226
Mol Cell. 2009 Nov 13;36(3):500-11
pubmed: 19917257
Neurobiol Dis. 2018 Feb;110:68-81
pubmed: 29196214
Neurobiol Aging. 2018 Jul;67:189-200
pubmed: 29735433
Acta Neuropathol. 2007 Nov;114(5):481-9
pubmed: 17653558
Nat Med. 2008 Nov;14(11):1247-55
pubmed: 18953351
Ann Clin Transl Neurol. 2015 Apr;2(4):433-8
pubmed: 25909088
Brain. 2017 Dec 1;140(12):3191-3203
pubmed: 29140481
J Neurosci Res. 1991 Apr;28(4):525-30
pubmed: 1678435
Nature. 2006 Aug 24;442(7105):916-9
pubmed: 16862116
Prog Lipid Res. 2012 Jan;51(1):23-35
pubmed: 22142854
ASN Neuro. 2018 Jan-Dec;10:1759091418781889
pubmed: 29932343
Exp Neurol. 2015 Jan;263:177-89
pubmed: 25448159
J Neurol Sci. 2010 May 15;292(1-2):45-51
pubmed: 20206941
Stem Cell Reports. 2016 Mar 8;6(3):342-56
pubmed: 26905200
Neurosci Lett. 2020 Apr 23;725:134873
pubmed: 32112819
Sci Rep. 2018 Aug 20;8(1):12462
pubmed: 30127535
FEBS Lett. 2018 Dec;592(23):3835-3864
pubmed: 29802621
Exp Gerontol. 2002 Jul;37(7):937-41
pubmed: 12086703
J Parkinsons Dis. 2020;10(1):141-152
pubmed: 31594250
Cell Mol Neurobiol. 2018 Apr;38(3):579-593
pubmed: 28623429
Nature. 2006 Aug 24;442(7105):920-4
pubmed: 16862115
Neurobiol Dis. 2018 Apr;112:85-90
pubmed: 29369793
Glycoconj J. 2020 Jun;37(3):329-343
pubmed: 32198666
PLoS One. 2015 Dec 02;10(12):e0143351
pubmed: 26629687
J Neurol Sci. 2013 Dec 15;335(1-2):219-20
pubmed: 24035292
Ann Neurol. 2012 Sep;72(3):455-63
pubmed: 23034917
Hum Mol Genet. 2014 Jan 15;23(2):418-33
pubmed: 24026681
Neurology. 2004 Dec 14;63(11):2189-90
pubmed: 15596783
Hum Mol Genet. 2012 Jun 15;21(12):2646-50
pubmed: 22388936
Ann N Y Acad Sci. 1998 Jun 19;845:161-75
pubmed: 9668350
PLoS One. 2018 Jun 14;13(6):e0199189
pubmed: 29902255
Cell Death Dis. 2018 Feb 28;9(3):328
pubmed: 29491402
Acta Neuropathol. 2010 Nov;120(5):641-9
pubmed: 20838799
Eur J Biochem. 1998 Oct 15;257(2):293-8
pubmed: 9826173
J Biol Chem. 2012 Jan 27;287(5):3197-206
pubmed: 22144673
Sci Rep. 2019 Jun 11;9(1):8512
pubmed: 31186474
J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):702-709
pubmed: 29378790
Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):9142-7
pubmed: 10430909
Exp Neurol. 2000 Nov;166(1):127-35
pubmed: 11031089
Blood Cells Mol Dis. 2018 Feb;68:115-116
pubmed: 27864021
Exp Gerontol. 2002 Oct-Nov;37(10-11):1273-82
pubmed: 12470841
J Neuropathol Exp Neurol. 2004 Apr;63(4):323-8
pubmed: 15099022
J Biochem. 2018 Apr 1;163(4):273-280
pubmed: 29319803
Nature. 2013 Sep 5;501(7465):116-20
pubmed: 23913272
Neurobiol Aging. 2020 Sep;93:143.e1-143.e4
pubmed: 32371106
Mov Disord. 2021 May;36(5):1216-1228
pubmed: 33547828
Mol Ther. 2021 Oct 6;29(10):3059-3071
pubmed: 34111562
FEBS Lett. 2010 May 3;584(9):1741-7
pubmed: 19822144
Acta Neuropathol. 2020 Jun;139(6):1001-1024
pubmed: 32172343
Neuropathology. 2014 Feb;34(1):49-57
pubmed: 23711246
PLoS One. 2018 Feb 26;13(2):e0193438
pubmed: 29481565
Nature. 2007 Sep 6;449(7158):62-7
pubmed: 17687330