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Diseases 2016, 4(4), 31; doi:10.3390/diseases4040031

Mitochondrial Dysfunction in Lysosomal Storage Disorders

1
Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), Sevilla 41013, Spain
2
Department of Biomedical Sciences and Medicine, University of Algarve, Faro 8005-139, Portugal
*
Author to whom correspondence should be addressed.
Academic Editors: Jose A. Sanchez-Alcazar and Luis M. Jiménez Jiménez
Received: 29 August 2016 / Revised: 21 September 2016 / Accepted: 1 October 2016 / Published: 11 October 2016
(This article belongs to the Collection Lysosomal Storage Diseases)
View Full-Text   |   Download PDF [228 KB, uploaded 11 October 2016]

Abstract

Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations such as impairment of autophagy, mitochondrial dysfunction, inflammation and apoptosis. LSDs frequently involve the central nervous system (CNS), where neuronal dysfunction or loss results in progressive neurodegeneration and premature death. Many LSDs exhibit signs of mitochondrial dysfunction, which include mitochondrial morphological changes, decreased mitochondrial membrane potential (ΔΨm), diminished ATP production and increased generation of reactive oxygen species (ROS). Furthermore, reduced autophagic flux may lead to the persistence of dysfunctional mitochondria. Gaucher disease (GD), the LSD with the highest prevalence, is caused by mutations in the GBA1 gene that results in defective and insufficient activity of the enzyme β-glucocerebrosidase (GCase). Decreased catalytic activity and/or instability of GCase leads to accumulation of glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) in the lysosomes of macrophage cells and visceral organs. Mitochondrial dysfunction has been reported to occur in numerous cellular and mouse models of GD. The aim of this manuscript is to review the current knowledge and implications of mitochondrial dysfunction in LSDs. View Full-Text
Keywords: lysosomal storage disorders; mitochondrial dysfunction; Gaucher disease lysosomal storage disorders; mitochondrial dysfunction; Gaucher disease
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

de la Mata, M.; Cotán, D.; Villanueva-Paz, M.; de Lavera, I.; Álvarez-Córdoba, M.; Luzón-Hidalgo, R.; Suárez-Rivero, J.M.; Tiscornia, G.; Oropesa-Ávila, M. Mitochondrial Dysfunction in Lysosomal Storage Disorders. Diseases 2016, 4, 31.

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