|Generate QR code
Open Access
Subscription Access
Lysosomal diseases and common neurodegenerative diseases: a common mechanism of pathogenesis
https://doi.org/10.25557/2073-7998.2022.06.16-24
Abstract
Lysosomal storage diseases (LSDs) comprise the group of about 70 disorders characterized by lysosomal dysfunction, most of which have autosomal recessive trait of inheritance. Despite the fact that each nosology itself is a rather rare disease, the overall prevalence of LSD ranges from 1:5,000 to 1:7,500 among newborns, with a higher incidence among the population (Finns, Ashkenazi Jews). The accumulation of macromolecules in the organelles of endosomal-autophagic-lysosomal system is considered to be a common link of the pathogenesis for all LSD. Last decade, there has been a particular interest in the common ground of pathogenesis underlying the development of lysosomal diseases and frequent neurodegenerative diseases such as Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis. This review we provide the main molecular mechanisms underlying these two human disease groups. Understanding the resemblance of the pathogenesis of theses groups can help for look at their etiology from the other side and open new perspectives on the drug therapy.
About the Authors
D. V. Kistol
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. Y. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
P. G. Tsygankova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. de Duve C. The lysosome turns fifty. Nat. Cell Biol. 2005;7(9):847-849. DOI: 10.1038/ncb0905-847.
2. Wallings R.L., Humble S.W., Ward M.E., Wade-Martins R. Lysosomal Dysfunction at the Centre of Parkinson’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis. Trends Neurosci. 2019;42(12):899-912. DOI: 10.1016/j.tins.2019.10.002.
3. Ballabio A., Bonifacino J.S. Lysosomes as dynamic regulators of cell and organismal homeostasis. Nat. Rev. Mol. Cell Biol. 2020;21(2):101-118. DOI: 10.1038/s41580-019-0185-4.
4. Bellettato C.M., Scarpa M. Pathophysiology of neuropathic lysosomal storage disorders. J. Inherit. Metab. Dis. 2010;33(4):347-362. DOI: 10.1007/s10545-010-9075-9.
5. Eckhardt M. Pathology and Current Treatment of Neurodegenerative Sphingolipidoses. NeuroMolecular Med. 2010;12(4):362-382. DOI: 10.1007/s12017-010-8133-7.
6. Huizing M., Gahl W.A. Inherited disorders of lysosomal membrane transporters. Biochim. Biophys. Acta BBA - Biomembr. 2020;1862(12):183336. DOI: 10.1016/j.bbamem.2020.183336.
7. Chung K.M., Hernández N., Sproul A.A., Yu W.H. Alzheimer’s disease and the autophagic-lysosomal system. Neurosci. Lett. 2019;697:49-58. DOI: 10.1016/j.neulet.2018.05.017.
8. Senkevich K., Gan-Or Z. Autophagy lysosomal pathway dysfunction in Parkinson’s disease; evidence from human genetics. Parkinsonism Relat. Disord. 2020;(73):60-71. DOI: 10.1016/j.parkreldis.2019.11.015.
9. Van Acker Z.P., Bretou M., Annaert W. Endo-lysosomal dysregulations and late-onset Alzheimer’s disease: impact of genetic risk factors. Mol. Neurodegener. 2019;14(1):20. DOI: 10.1186/s13024-019-0323-7.
10. Fernández-Pajarín G., Sesar A., Ares-Pensado B., Castro A. Enfermedad de Parkinson por sendas mutaciones en 2 genes relacionados con la degradación por lisosomas. Neurología. 2020;35(8):611-612. DOI: 10.1016/j.nrl.2019.09.001.
11. Nguyen M., Wong Y.C., Ysselstein D. et al. Synaptic, Mitochondrial, and Lysosomal Dysfunction in Parkinson’s Disease. Trends Neurosci. 2019;42(2):140-149. DOI: 10.1016/j.tins.2018.11.001.
12. Lloyd-Evans E., Haslett L.J. The lysosomal storage disease continuum with ageing-related neurodegenerative disease. Ageing Res. Rev. 2016;32:104-121. DOI: 10.1016/j.arr.2016.07.005.
13. Djajadikerta A., Keshri S., Pavel M. et al. Autophagy Induction as a Therapeutic Strategy for Neurodegenerative Diseases. J. Mol. Biol. 2020;432(8):2799-2821. DOI: 10.1016/j.jmb.2019.12.035.
14. Stirnemann J., Belmatoug N., Camou F. et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.Int. J. Mol. Sci. 2017;18(2):441. DOI: 10.3390/ijms18020441.
15. Dodge J.C. Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases. Front. Mol. Neurosci. 2017;10:356. DOI: 10.3389/fnmol.2017.00356.
16. Parenti G., Medina D.L., Ballabio A. The rapidly evolving view of lysosomal storage diseases. EMBO Mol. Med. 2021;13(2): e12836. DOI: 10.15252/emmm.202012836.
17. Platt F.M., d’Azzo A., Davidson B.L. et al. Lysosomal storage diseases. Nat. Rev. Dis. Primer. 2018;4(1):27. DOI: 10.1038/s41572-018-0025-4.
18. Platt F.M., Boland B., van der Spoel A.C. Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. J. Cell Biol. 2012;199(5):723-734. DOI: 10.1083/jcb.201208152.
19. Martina J.A., Raben N., Puertollano R. SnapShot: Lysosomal Storage Diseases. Cell. 2020;180(3):602-602.e1. DOI: 10.1016/j.cell.2020.01.017.
20. Boustany R.-M.N. Lysosomal storage diseases - the horizon expands. Nat. Rev. Neurol. 2013;9(10):583-598. DOI: 10.1038/nrneurol.2013.163.
21. Rha A.K., Maguire A.S., Martin D.R. GM1 Gangliosidosis: Mechanisms and Management. Appl. Clin. Genet. 2021;14:209-233. DOI: 10.2147/TACG.S206076.
22. Leal A.F., Benincore-Flórez E., Solano-Galarza D. et al. GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.Int. J. Mol. Sci. 2020;21(17):6213. DOI: 10.3390/ijms21176213.
23. Cariati I., Masuelli L., Bei R. et al. Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment.Int. J. Mol. Sci. 2021;22(12):6600. DOI: 10.3390/ijms22126600.
24. Kovacs G.G. Concepts and classification of neurodegenerative diseases. Handbook of Clinical Neurology. Elsevier, 2018;145:301-307. DOI: 10.1016/B978-0-12-802395-2.00021-3.
25. Dugger B.N., Dickson D.W. Pathology of Neurodegenerative Diseases. Cold Spring Harb. Perspect. Biol. 2017;9(7):a028035. DOI: 10.1101/cshperspect.a028035.
26. Ross C.A., Poirier M.A. Protein aggregation and neurodegenerative disease. Nat. Med. 2004;10(S7):S10-S17. DOI: 10.1038/nm1066.
27. Navarro-Romero A., Montpeyó M., Martinez-Vicente M. The Emerging Role of the Lysosome in Parkinson’s Disease. Cells. 2020;9(11):2399. DOI: 10.3390/cells9112399.
28. Oskarsson B., Gendron T.F., Staff N.P. Amyotrophic Lateral Sclerosis: An Update for 2018. Mayo Clin. Proc. 2018;93(11):1617-1628. DOI: 10.1016/j.mayocp.2018.04.007.
29. Rusmini P., Cortese K., Crippa V. et al. Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration. Autophagy. 2019;15(4):631-651. DOI: 10.1080/ 15548627.2018.1535292.
Review
For citations:
Kistol D.V., Zakharova E.Y., Tsygankova P.G. Lysosomal diseases and common neurodegenerative diseases: a common mechanism of pathogenesis. Medical Genetics. 2022;21(6):16-24. (In Russ.) https://doi.org/10.25557/2073-7998.2022.06.16-24
Views:
272
Email this article 