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Biology
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Lysosomes and Diseases Associated with Its Dysfunction
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Lysosomes and Diseases Associated with Its Dysfunction

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Cell Biology".

Deadline for manuscript submissions: 15 November 2025 | Viewed by 15968

Special Issue Editor

Dr. Sokhna M.S. Yakhine-Diop

E-Mail Website
Guest Editor
1. Department Bioquímica y Biología Molecular y Genética, Facultad de Enfermería y Terapia Ocupacional, Universidad de Extremadura Avda de la Universidad s/n, 10003 Cáceres, Spain
2. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), 28049 Madrid, Spain
Interests: autophagy; Parkinson disease; acetylation; myotonic dystrophy

Special Issue Information

Dear Colleagues, 

Lysosomes are metabolic sensors and play a key role in the regulation of metabolism. As degradative organelles, the catabolic function of lysosomes is accomplished by hydrolases, lipases, nucleases and proteases. Metabolites (nucleotides, amino acids sugars, lipids) generated by lysosomal degradation are exported to the cytoplasm to be reused. Moreover, lysosomes have the ability to tether with other membrane organelles, including endoplasmic reticulum and mitochondria, to coordinate the cellular metabolic response. Abnormalities in endosomes and lysosomes or dysregulation in their trafficking could be associated with various disorders. This Special Issue welcomes original research relating to this theme in the field of biology and biomedicine. Reviews describing signalling pathways and methodology articles highlighting recommendations and cautions for the study and characterization of these organelles are also welcome.

Dr. Sokhna M.S. Yakhine-Diop
Guest Editor

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Keywords

  • activities
  • mutations
  • endocytosis
  • autophagy
  • metabolism
  • proteins

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Published Papers (4 papers)

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Research

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21 pages, 4570 KiB  
Article
Levodopa Impairs Lysosomal Function in Sensory Neurons In Vitro
by Oyedele J. Olaoye, Asya Esin Aksoy, Santeri V. Hyytiäinen, Aia A. Narits and Miriam A. Hickey
Biology 2024, 13(11), 893; https://doi.org/10.3390/biology13110893 - 2 Nov 2024
Cited by 1 | Viewed by 1518
Abstract
Parkinson’s disease (PD) is the second-most common neurodegenerative disease worldwide. Patients are diagnosed based upon movement disorders, including bradykinesia, tremor and stiffness of movement. However, non-motor signs, including constipation, rapid eye movement sleep behavior disorder, smell deficits and pain are well recognized. Peripheral [...] Read more.
Parkinson’s disease (PD) is the second-most common neurodegenerative disease worldwide. Patients are diagnosed based upon movement disorders, including bradykinesia, tremor and stiffness of movement. However, non-motor signs, including constipation, rapid eye movement sleep behavior disorder, smell deficits and pain are well recognized. Peripheral neuropathy is also increasingly recognized, as the vast majority of patients show reduced intraepidermal nerve fibers, and sensory nerve conduction and sensory function is also impaired. Many case studies in the literature show that high-dose levodopa may induce or exacerbate neuropathy in PD, which is thought to involve levodopa’s metabolism to homocysteine. Here, we treated primary cultures of dorsal root ganglia and a sensory neuronal cell line with levodopa to examine effects on cell morphology, mitochondrial content and physiology, and lysosomal function. High-dose levodopa reduced mitochondrial membrane potential. At concentrations observed in the patient, levodopa enhanced immunoreactivity to beta III tubulin. Critically, levodopa reduced lysosomal content and also reduced the proportion of lysosomes that were acidic, thereby impairing their function, whereas homocysteine tended to increase lysosome content. Levodopa is a critically important drug for the treatment of PD. However, our data suggest that at concentrations observed in the patient, it has deleterious effects on sensory neurons that are not related to homocysteine. Full article
(This article belongs to the Special Issue Lysosomes and Diseases Associated with Its Dysfunction)
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Review

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12 pages, 1893 KiB  
Review
Role of TFEB in Huntington’s Disease
by Javier Ojalvo-Pacheco, Sokhna M. S. Yakhine-Diop, José M. Fuentes, Marta Paredes-Barquero and Mireia Niso-Santano
Biology 2024, 13(4), 238; https://doi.org/10.3390/biology13040238 - 4 Apr 2024
Viewed by 3028
Abstract
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by an expansion of the CAG trinucleotide repeat in exon 1 of the huntingtin (HTT) gene. This expansion leads to a polyglutamine (polyQ) tract at the N-terminal end of HTT, which reduces the [...] Read more.
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by an expansion of the CAG trinucleotide repeat in exon 1 of the huntingtin (HTT) gene. This expansion leads to a polyglutamine (polyQ) tract at the N-terminal end of HTT, which reduces the solubility of the protein and promotes its accumulation. Inefficient clearance of mutant HTT (mHTT) by the proteasome or autophagy–lysosomal system leads to accumulation of oligomers and toxic protein aggregates in neurons, resulting in impaired proteolytic systems, transcriptional dysregulation, impaired axonal transport, mitochondrial dysfunction and cellular energy imbalance. Growing evidence suggests that the accumulation of mHTT aggregates and autophagic and/or lysosomal dysfunction are the major pathogenic mechanisms underlying HD. In this context, enhancing autophagy may be an effective therapeutic strategy to remove protein aggregates and improve cell function. Transcription factor EB (TFEB), a master transcriptional regulator of autophagy, controls the expression of genes critical for autophagosome formation, lysosomal biogenesis, lysosomal function and autophagic flux. Consequently, the induction of TFEB activity to promote intracellular clearance may be a therapeutic strategy for HD. However, while some studies have shown that overexpression of TFEB facilitates the clearance of mHTT aggregates and ameliorates the disease phenotype, others indicate such overexpression may lead to mHTT co-aggregation and worsen disease progression. Further studies are necessary to confirm whether TFEB modulation could be an effective therapeutic strategy against mHTT-mediated toxicity in different disease models. Full article
(This article belongs to the Special Issue Lysosomes and Diseases Associated with Its Dysfunction)
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34 pages, 4366 KiB  
Review
Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases
by Elisabet Uribe-Carretero, Verónica Rey, Jose Manuel Fuentes and Isaac Tamargo-Gómez
Biology 2024, 13(1), 34; https://doi.org/10.3390/biology13010034 - 7 Jan 2024
Cited by 3 | Viewed by 6557
Abstract
Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human [...] Read more.
Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human pathologies with different etiologies known as known as lysosomal storage disorders (LSDs). These disorders can result from deficiencies in primary lysosomal enzymes, dysfunction of lysosomal enzyme activators, alterations in modifiers that impact lysosomal function, or changes in membrane-associated proteins, among other factors. The clinical phenotype observed in affected patients hinges on the type and location of the accumulating substrate, influenced by genetic mutations and residual enzyme activity. In this context, the scientific community is dedicated to exploring potential therapeutic approaches, striving not only to extend lifespan but also to enhance the overall quality of life for individuals afflicted with LSDs. This review provides insights into lysosomal dysfunction from a molecular perspective, particularly in the context of human diseases, and highlights recent advancements and breakthroughs in this field. Full article
(This article belongs to the Special Issue Lysosomes and Diseases Associated with Its Dysfunction)
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18 pages, 1349 KiB  
Review
Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes
by Nuria Gómez-Cebrián, Elena Gras-Colomer, José Luis Poveda Andrés, Antonio Pineda-Lucena and Leonor Puchades-Carrasco
Biology 2023, 12(9), 1159; https://doi.org/10.3390/biology12091159 - 23 Aug 2023
Cited by 4 | Viewed by 3730
Abstract
Lysosomal storage disorders (LSDs) constitute a large group of rare, multisystemic, inherited disorders of metabolism, characterized by defects in lysosomal enzymes, accessory proteins, membrane transporters or trafficking proteins. Pompe disease (PD) is produced by mutations in the acid alpha-glucosidase (GAA) lysosomal enzyme. This [...] Read more.
Lysosomal storage disorders (LSDs) constitute a large group of rare, multisystemic, inherited disorders of metabolism, characterized by defects in lysosomal enzymes, accessory proteins, membrane transporters or trafficking proteins. Pompe disease (PD) is produced by mutations in the acid alpha-glucosidase (GAA) lysosomal enzyme. This enzymatic deficiency leads to the aberrant accumulation of glycogen in the lysosome. The onset of symptoms, including a variety of neurological and multiple-organ pathologies, can range from birth to adulthood, and disease severity can vary between individuals. Although very significant advances related to the development of new treatments, and also to the improvement of newborn screening programs and tools for a more accurate diagnosis and follow-up of patients, have occurred over recent years, there exists an unmet need for further understanding the molecular mechanisms underlying the progression of the disease. Also, the reason why currently available treatments lose effectiveness over time in some patients is not completely understood. In this scenario, characterization of the metabolic phenotype is a valuable approach to gain insights into the global impact of lysosomal dysfunction, and its potential correlation with clinical progression and response to therapies. These approaches represent a discovery tool for investigating disease-induced modifications in the complete metabolic profile, including large numbers of metabolites that are simultaneously analyzed, enabling the identification of novel potential biomarkers associated with these conditions. This review aims to highlight the most relevant findings of recently published omics-based studies with a particular focus on describing the clinical potential of the specific metabolic phenotypes associated to different subgroups of PD patients. Full article
(This article belongs to the Special Issue Lysosomes and Diseases Associated with Its Dysfunction)
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