Lysosomal and mitochondrial liaisons in Niemann Pick type C disease

Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct lysosomal-residing proteins, acid sphingomyelinase and...

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Autores: Torres, Sandra, Balboa, Elisa, Zanlungo, Silvana, Enrich Bastús, Carles, García Ruiz, Carmen, Fernández-Checa Torres, José Carlos
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/138781
Acceso en línea:https://hdl.handle.net/2445/138781
Access Level:acceso abierto
Palabra clave:Malalties de Niemann-Pick
Mitocondris
Lisosomes
Colesterol
Niemann-Pick diseases
Mitochondria
Lysosomes
Cholesterol
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spelling Lysosomal and mitochondrial liaisons in Niemann Pick type C diseaseTorres, SandraBalboa, ElisaZanlungo, SilvanaEnrich Bastús, CarlesGarcía Ruiz, CarmenFernández-Checa Torres, José CarlosMalalties de Niemann-PickMitocondrisLisosomesColesterolNiemann-Pick diseasesMitochondriaLysosomesCholesterolLysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct lysosomal-residing proteins, acid sphingomyelinase and NPC1, respectively. While the primary cause of these diseases differs, both share common biochemical features, including the accumulation of sphingolipids and cholesterol, predominantly in endolysosomes. Besides these alterations in lysosomal homeostasis and function due to accumulation of specific lipid species, the lysosomal functional defects can have far-reaching consequences, disrupting intracellular trafficking of sterols, lipids and calcium through membrane contact sites (MCS) of apposed compartments. Although MCS between endoplasmic reticulum and mitochondria have been well studied and characterized in different contexts, emerging evidence indicates that lysosomes also exhibit close proximity with mitochondria, which translates in their mutual functional regulation. Indeed, as best illustrated in NPC disease, alterations in the lysosomal-mitochondrial liaisons underlie the secondary accumulation of specific lipids, such as cholesterol in mitochondria, resulting in mitochondrial dysfunction and defective antioxidant defense, which contribute to disease progression. Thus, a better understanding of the lysosomal and mitochondrial interactions and trafficking may identify novel targets for the treatment of Niemann-Pick disease.Frontiers Media2019201920172019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion13 p.application/pdfhttps://hdl.handle.net/2445/138781Articles publicats en revistes (Biomedicina)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.3389/fphys.2017.00982Frontiers in Physiology, 2017, vol. 8, num. 982https://doi.org/10.3389/fphys.2017.00982cc-by (c) Torres, Sandra et al., 2017http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:recercat.cat:2445/1387812026-05-29T05:05:01Z
dc.title.none.fl_str_mv Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
title Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
spellingShingle Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
Torres, Sandra
Malalties de Niemann-Pick
Mitocondris
Lisosomes
Colesterol
Niemann-Pick diseases
Mitochondria
Lysosomes
Cholesterol
title_short Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
title_full Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
title_fullStr Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
title_full_unstemmed Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
title_sort Lysosomal and mitochondrial liaisons in Niemann Pick type C disease
dc.creator.none.fl_str_mv Torres, Sandra
Balboa, Elisa
Zanlungo, Silvana
Enrich Bastús, Carles
García Ruiz, Carmen
Fernández-Checa Torres, José Carlos
author Torres, Sandra
author_facet Torres, Sandra
Balboa, Elisa
Zanlungo, Silvana
Enrich Bastús, Carles
García Ruiz, Carmen
Fernández-Checa Torres, José Carlos
author_role author
author2 Balboa, Elisa
Zanlungo, Silvana
Enrich Bastús, Carles
García Ruiz, Carmen
Fernández-Checa Torres, José Carlos
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Malalties de Niemann-Pick
Mitocondris
Lisosomes
Colesterol
Niemann-Pick diseases
Mitochondria
Lysosomes
Cholesterol
topic Malalties de Niemann-Pick
Mitocondris
Lisosomes
Colesterol
Niemann-Pick diseases
Mitochondria
Lysosomes
Cholesterol
description Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct lysosomal-residing proteins, acid sphingomyelinase and NPC1, respectively. While the primary cause of these diseases differs, both share common biochemical features, including the accumulation of sphingolipids and cholesterol, predominantly in endolysosomes. Besides these alterations in lysosomal homeostasis and function due to accumulation of specific lipid species, the lysosomal functional defects can have far-reaching consequences, disrupting intracellular trafficking of sterols, lipids and calcium through membrane contact sites (MCS) of apposed compartments. Although MCS between endoplasmic reticulum and mitochondria have been well studied and characterized in different contexts, emerging evidence indicates that lysosomes also exhibit close proximity with mitochondria, which translates in their mutual functional regulation. Indeed, as best illustrated in NPC disease, alterations in the lysosomal-mitochondrial liaisons underlie the secondary accumulation of specific lipids, such as cholesterol in mitochondria, resulting in mitochondrial dysfunction and defective antioxidant defense, which contribute to disease progression. Thus, a better understanding of the lysosomal and mitochondrial interactions and trafficking may identify novel targets for the treatment of Niemann-Pick disease.
publishDate 2017
dc.date.none.fl_str_mv 2017
2019
2019
2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/138781
url https://hdl.handle.net/2445/138781
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3389/fphys.2017.00982
Frontiers in Physiology, 2017, vol. 8, num. 982
https://doi.org/10.3389/fphys.2017.00982
dc.rights.none.fl_str_mv cc-by (c) Torres, Sandra et al., 2017
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Torres, Sandra et al., 2017
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 13 p.
application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv Articles publicats en revistes (Biomedicina)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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