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Cells
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Cellular and Molecular Mechanisms of Lysosomal Storage Disorders
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Cellular and Molecular Mechanisms of Lysosomal Storage Disorders

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: 15 April 2025 | Viewed by 4581

Special Issue Editor

Prof. Dr. Ritva Tikkanen

E-Mail Website
Guest Editor
Institute of Biochemistry, Medical Faculty, Justus-Liebig University of Giessen, Friedrichstrasse 24, D-35392 Giessen, Germany
Interests: lysosomal storage disorders; vesicular trafficking; endosomal sorting; lysosome biogenesis; mitochondrial diseases; autoimmune disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Lysosomal storage disorders (LSDs) are rare, monogenic diseases that are characterized by aberrant lysosomes with storage material. These diseases often manifest as neurodegeneration and are associated with a reduced life span. Many of the LSDs result from a deficiency of a single enzyme, whereas others are caused by mutations in non-enzymatic proteins. The molecular mechanisms and cellular pathology of these diseases have been subject to intensive research for decades, but only few therapy options for these diseases are available. However, ever more preclinical studies on novel therapies such as gene therapy, chaperone therapy and enzyme replacement therapy are emerging in the last few years.

The purpose of this Special Issue is to summarize our current understanding about the disease pathogenesis and molecular mechanisms of LSDs, and to explore therapeutic strategies that could be used in LSDs. We also welcome manuscripts addressing the involvement of various cellular pathways such as autophagy, neuroinflammation, endosomal dysfunction and signaling pathways in the pathogenesis of LSDs. Novel concepts such as the common features of LSDs and other neurodegenerative diseases such as Alzheimer’s or Parkinson’s are also subjects of interest for this Special Issue. We encourage the submission of comprehensive review articles and original research papers. Our aim is to provide a comprehensive update on LSDs, their pathomechanisms and therapy options.

Prof. Dr. Ritva Tikkanen
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • lysosomes
  • lysosomal storage disorders
  • enzyme replacement
  • gene therapy
  • substrate reduction
  • pharmacological chaperones
  • autophagy
  • endosomal dysfunction

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Published Papers (2 papers)

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21 pages, 6133 KiB  
Article
Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model
by Louise Medaer, Dries David, Maxime Smits, Elena Levtchenko, Maurilio Sampaolesi and Rik Gijsbers
Cells 2024, 13(7), 646; https://doi.org/10.3390/cells13070646 - 6 Apr 2024
Viewed by 1592
Abstract
Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes. While cysteamine lowers the cystine levels, it does not cure the disease, suggesting that CTNS exerts additional functions besides [...] Read more.
Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes. While cysteamine lowers the cystine levels, it does not cure the disease, suggesting that CTNS exerts additional functions besides cystine transport. This study investigated the impact of infantile and juvenile CTNS mutations with discrepant genotype/phenotype correlations on CTNS expression, and subcellular localisation and function in clinically relevant cystinosis cell models to better understand the link between genotype and CTNS function. Using CTNS-depleted proximal tubule epithelial cells and patient-derived fibroblasts, we expressed a selection of CTNSmutants under various promoters. EF1a-driven expression led to substantial overexpression, resulting in CTNS protein levels that localised to the lysosomal compartment. All CTNSmutants tested also reversed cystine accumulation, indicating that CTNSmutants still exert transport activity, possibly due to the overexpression conditions. Surprisingly, even CTNSmutants expression driven by the less potent CTNS and EFS promoters reversed the cystine accumulation, contrary to the CTNSG339R missense mutant. Taken together, our findings shed new light on CTNS mutations, highlighting the need for robust assessment methodologies in clinically relevant cellular models and thus paving the way for better stratification of cystinosis patients, and advocating for the development of more personalized therapy. Full article
(This article belongs to the Special Issue Cellular and Molecular Mechanisms of Lysosomal Storage Disorders)
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21 pages, 4505 KiB  
Article
Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy
by Dar-Shong Lin, Yu-Wen Huang, Tsung-Han Lee, Lung Chang, Zon-Darr Huang, Tsu-Yen Wu, Tuan-Jen Wang and Che-Sheng Ho
Cells 2023, 12(7), 993; https://doi.org/10.3390/cells12070993 - 24 Mar 2023
Cited by 5 | Viewed by 2126
Abstract
We have shown in vivo and in vitro previously that psychosine causes dysfunction of autophagy and the ubiquitin-proteasome system underlying the pathogenesis of globoid cell leukodystrophy (GLD), a devastating lysosomal storage disease complicated by global demyelination. Here, we investigated the therapeutic efficacy of [...] Read more.
We have shown in vivo and in vitro previously that psychosine causes dysfunction of autophagy and the ubiquitin-proteasome system underlying the pathogenesis of globoid cell leukodystrophy (GLD), a devastating lysosomal storage disease complicated by global demyelination. Here, we investigated the therapeutic efficacy of the mTOR inhibitor rapamycin in twitcher mice, a murine model of infantile GLD, in biochemical, histochemical, and clinical aspects. Administration of rapamycin to twitcher mice inhibited mTOR signaling in the brains, and significantly reduced the accumulation of insoluble ubiquitinated protein and the formation of ubiquitin aggregates. The astrocytes and microglia reactivity were attenuated in that reactive astrocytes, ameboid microglia, and globoid cells were reduced in the brains of rapamycin-treated twitcher mice. Furthermore, rapamycin improved the cortical myelination, neurite density, and rescued the network complexity in the cortex of twitcher mice. The therapeutic action of rapamycin on the pathology of the twitcher mice’s brains prolonged the longevity of treated twitcher mice. Overall, these findings validate the therapeutic efficacy of rapamycin and highlight enhancing degradation of aggregates as a therapeutic strategy to modulate neuroinflammation, demyelination, and disease progression of GLD and other leukodystrophies associated with intracellular aggregates. Full article
(This article belongs to the Special Issue Cellular and Molecular Mechanisms of Lysosomal Storage Disorders)
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