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Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Frontiers in physiology, 2017-11, Vol.8, p.982-982 [Peer Reviewed Journal]

COPYRIGHT 2017 Frontiers Research Foundation ;Copyright © 2017 Torres, Balboa, Zanlungo, Enrich, Garcia-Ruiz and Fernandez-Checa. 2017 Torres, Balboa, Zanlungo, Enrich, Garcia-Ruiz and Fernandez-Checa ;ISSN: 1664-042X ;EISSN: 1664-042X ;DOI: 10.3389/fphys.2017.00982 ;PMID: 29249985

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  • Title:
    Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
  • Author: Torres, Sandra ; Balboa, Elisa ; Zanlungo, Silvana ; Enrich, Carlos ; Garcia-Ruiz, Carmen ; Fernandez-Checa, Jose C
  • Subjects: Care and treatment ; Causes of ; cholesterol ; Development and progression ; intracellular trafficking ; lysosomal disorders ; lysosomes ; Membrane lipids ; Metabolism, Inborn errors of ; mitochondria ; Physiological aspects ; Physiology ; Pick's disease ; Sphingolipids
  • Is Part Of: Frontiers in physiology, 2017-11, Vol.8, p.982-982
  • 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 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.
  • Publisher: Switzerland: Frontiers Research Foundation
  • Language: English
  • Identifier: ISSN: 1664-042X
    EISSN: 1664-042X
    DOI: 10.3389/fphys.2017.00982
    PMID: 29249985
  • Source: GFMER Free Medical Journals
    PubMed Central
    ROAD: Directory of Open Access Scholarly Resources
    DOAJ Directory of Open Access Journals
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