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Mitochondrial Dysfunction in Lysosomal Storage Disorders

Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), Sevilla 41013, Spain
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
Diseases 2016, 4(4), 31;
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)
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
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.

AMA Style

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

Chicago/Turabian Style

De la Mata, Mario, David Cotán, Marina Villanueva-Paz, Isabel De Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia, and Manuel Oropesa-Ávila. 2016. "Mitochondrial Dysfunction in Lysosomal Storage Disorders" Diseases 4, no. 4: 31.

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