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Genetic and Metabolic Molecular Research of Lysosomal Storage Disease: 5th Edition

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 31 July 2026 | Viewed by 1527

Special Issue Editor

Prof. Dr. Grzegorz Wegrzyn

E-Mail Website
Guest Editor
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland
Interests: gene expression regulation; DNA replication; bacteriophages; plasmids; human genetic diseases; neurodegeneration
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders in which the defects of various lysosomal enzymes and regulatory proteins result in the accumulation of different macromolecules in these organelles. Over 50 LSDs are described in the literature, and they are among the most intensively studied genetic disorders. They are also model genetic diseases for the development of various therapeutic approaches. The introduction of enzyme replacement therapy for LSDs created a breakthrough in treating genetic diseases, and several different therapeutic options are currently being studied, including hematopoietic stem cell transplantation, gene therapy, and substrate reduction therapy. However, to develop new therapies, the molecular mechanisms of LSDs must be understood in great detail. Now is the time for extensive molecular research on LSDs. This Special Issue is devoted to publishing the results of such studies, including basic research on the molecular mechanisms of LSDs, translational studies on novel therapies, and clinical investigations performed at the molecular level. Review articles on all these aspects are also welcome. Therefore, this Special Issue shall provide a comprehensive view on the molecular aspects of various LSDs.

This Issue is devoted to presenting research on the molecular aspects of lysosomal storage diseases. This group of diseases is at the forefront of genetic and metabolic disorders that are studied at the molecular level, and our understanding of molecular mechanisms, molecular pharmacology, and clinical aspects at the molecular level is crucial for further research in this field, as well as opening new ways of thinking about other less-understood diseases.

Prof. Dr. Grzegorz Wegrzyn
Guest Editor

Manuscript Submission Information

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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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • lysosomal storage diseases
  • molecular mechanisms of genetic disorders metabolic diseases
  • accumulation of macromolecules in cells
  • enzyme replacement therapy
  • hematopoietic stem cell transplantation gene therapy
  • substrate reduction therapy
  • translational research
  • novel therapies for genetic diseases

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Published Papers (2 papers)

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Research

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25 pages, 3639 KB  
Article
AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase
by Sampurna Saikia, Yasuhiko Ago, Fnu Nidhi, Shaukat Khan, Zhengyu Ma and Shunji Tomatsu
Int. J. Mol. Sci. 2026, 27(5), 2278; https://doi.org/10.3390/ijms27052278 - 28 Feb 2026
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Abstract
Mucopolysaccharidosis IVA (MPS IVA) is caused by the accumulation of undegraded glycosaminoglycans due to the deficiency of the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme. MPS IVA manifests as progressive systemic skeletal dysplasia. Gene therapy (GT) is potentially a one-time treatment in which the enzyme is [...] Read more.
Mucopolysaccharidosis IVA (MPS IVA) is caused by the accumulation of undegraded glycosaminoglycans due to the deficiency of the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme. MPS IVA manifests as progressive systemic skeletal dysplasia. Gene therapy (GT) is potentially a one-time treatment in which the enzyme is continuously produced, circulated, and delivered to target tissues. However, immune responses to gene products can diminish therapeutic efficacy. We hypothesized that oral delivery of tolerogenic peptides induces immune tolerance to human GALNS (hGALNS) in MPS IVA mice, enhancing therapeutic efficacy. Neonatal mice deficient in mouse GALNS (mGALNS) were treated orally with three T-cell/B-cell epitope peptides or hGALNS protein on alternate days from day 3 after birth to day 20 before intravenous injection with AAV9 vectors encoding human GALNS on day 30. The results are encouraging, with anti-hGALNS antibodies undetectable in the plasma of orally administered peptide groups. hGALNS enzyme activities in plasma and tissues were higher in the orally treated groups than in the non-tolerized control group. Keratan sulfate levels in plasma, liver, and bone were normalized. Complete correction for heart vacuolization was achieved in peptide-treated groups, and partial correction for bone pathology was observed in all GT-treated groups. Overall, oral tolerance induction using immunodominant peptides promises to significantly enhance the efficacy of AAV-GT for MPS IVA. Full article
(This article belongs to the Special Issue Genetic and Metabolic Molecular Research of Lysosomal Storage Disease: 5th Edition)
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Review

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13 pages, 766 KB  
Review
Newborn Screening in Fabry Disease
by Marta Olszewska, Krzysztof Schwermer and Krzysztof Pawlaczyk
Int. J. Mol. Sci. 2025, 26(24), 12125; https://doi.org/10.3390/ijms262412125 - 17 Dec 2025
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Abstract
Fabry disease (FD) is an X-linked genetic disease caused by deficient α galactosidase A activity, leading to a lysosomal storage disorder of globotriaosylceramide, causing organ damages. There are two most common clinical manifestations of the disease: classic FD with a typical onset of [...] Read more.
Fabry disease (FD) is an X-linked genetic disease caused by deficient α galactosidase A activity, leading to a lysosomal storage disorder of globotriaosylceramide, causing organ damages. There are two most common clinical manifestations of the disease: classic FD with a typical onset of symptoms in childhood in males, and later-onset variants which may include female heterozygotes. The highly heterogeneous and nonspecific nature of FD’s symptoms and limited physicians’ awareness result in a significant diagnostic and therapeutic delay. Even though the implementation of newborn screening (NBS) gives us an opportunity for early diagnosis and timely treatment, it has not yet been universally adopted. Over twenty pilot studies and screening programs worldwide have been published, showing that FD is more prevalent than previously estimated, exceeding 1 in 40,000 males, mainly due to the high incidence of variants of unknown significance (VUSs). They also raised controversies regarding the diagnostic methods, results interpretation, ethical issues, clinical approach, and economic burden. This review analyzes recent studies of NBS for FD; examines the screening methods, prevalence findings, and natural history data; and assesses the benefits and risks of NBS. We conclude with suggestions for the screening program design and research priorities to ensure that screening leads to improved health outcomes with acceptable costs and psychosocial impact. Full article
(This article belongs to the Special Issue Genetic and Metabolic Molecular Research of Lysosomal Storage Disease: 5th Edition)
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