Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.
Journal of Molecular Biology. 2020-04-01; 432(8): 2714-2734
DOI: 10.1016/j.jmb.2020.02.033
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1. J Mol Biol. 2020 Apr 3;432(8):2714-2734. doi: 10.1016/j.jmb.2020.02.033. Epub
2020 Mar 5.
Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.
Darios F(1), Stevanin G(2).
Author information:
(1)Sorbonne Université, F-75013, Paris, France; Inserm, U1127, F-75013 Paris,
France; CNRS, UMR 7225, F-75013 Paris, France; Institut du Cerveau et de la
Moelle Epinière, ICM, F-75013 Paris, France. Electronic address:
.
(2)Sorbonne Université, F-75013, Paris, France; Inserm, U1127, F-75013 Paris,
France; CNRS, UMR 7225, F-75013 Paris, France; Institut du Cerveau et de la
Moelle Epinière, ICM, F-75013 Paris, France; PSL Research University, Ecole
Pratique des Hautes Etudes, Laboratoire de Neurogénétique, F-75013 Paris, France.
Rare genetic diseases affect a limited number of patients, but their etiology is
often known, facilitating the development of reliable animal models and giving
the opportunity to investigate physiopathology. Lysosomal storage disorders are a
group of rare diseases due to primary alteration of lysosome function. These
diseases are often associated with neurological symptoms, which highlighted the
importance of lysosome in neurodegeneration. Likewise, other groups of rare
neurodegenerative diseases also present lysosomal alteration. Lysosomes fuse with
autophagosomes and endosomes to allow the degradation of their content thanks to
hydrolytic enzymes. It has emerged that alteration of the autophagy-lysosome
pathway could play a critical role in neuronal death in many neurodegenerative
diseases. Using a repertoire of selected rare neurodegenerative diseases, we
highlight that a variety of alterations of the autophagy-lysosome pathway are
associated with neuronal death. Yet, in most cases, it is still unclear why
alteration of this pathway can lead to neurodegeneration.
Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.
DOI: 10.1016/j.jmb.2020.02.033
PMCID: PMC7232018
PMID: 32145221 [Indexed for MEDLINE]