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Inborn Errors of Metabolism: From Pathomechanisms to Treatment
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Inborn Errors of Metabolism: From Pathomechanisms to Treatment

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Clinical Medicine, Cell, and Organism Physiology".

Deadline for manuscript submissions: 20 August 2025 | Viewed by 1073

Special Issue Editors

Dr. Andrés Felipe Leal

E-Mail Website
Guest Editor
Nemours Children’s Health, 1600 Rockland Road, Wilmington, DE 19803, USA
Interests: inborn errors of metabolism; pathomechanisms in lysosomal storage disorders; CRISPR/Cas9-based genome editing; ex-vivo CRISPR/Cas9 gene therapy; stem cell research
Dr. Carlos J. Almeciga-Diaz

E-Mail Website
Guest Editor
Institute for the Study in Inborn Errors of Metabolism—IEIM, Faculty of Science, Pontificia Universidad Javeriana, Bogotá 110231, Colombia
Interests: gene expression; molecular biology; inborn errors of metabolism (IEM)

Special Issue Information

Dear Colleagues,

We are pleased to invite you to submit your research to our new Special Issue, “Inborn Errors of Metabolism: From Pathomechanisms to Treatment”, which will focus on recent advances in the molecular and cellular mechanisms of inborn errors of metabolism (IEMs) and novel therapeutic approaches. While it is clear that inherited metabolic disorders are caused by mutations affecting the genes involved in metabolic pathways, new tools, including modern molecular and cellular methodologies, multiomics tools, three-dimensional culturing, and large-animal disease models, have allowed the discovery of previously unknown molecular and cellular aspects involving impaired intracellular organelle interactions, compensatory mechanisms, and aberrant signal pathway activation. Undoubtedly, increasing our understanding of IEMs will aid in the development of promising biomarkers and novel alternatives for the correction of disease-causing gene mutations and key treatments to ameliorate the cell physiology disturbances found in IEMs.

We invite researchers in this field to submit original research and review articles on IEMs, including, but not limited to, studies on molecular and cellular mechanisms, organelle–organelle and cell–cell interaction alterations, multiomics approaches, bioinformatics, biomarker discovery and implementation, and the development of new in vitro and in vivo models. In addition, studies involving therapeutic alternatives such as cell modulators (i.e., immunomodulators, antioxidants, and biogenesis inductors), as well as gene therapy alternatives, will be considered.

Dr. Andrés Felipe Leal
Dr. Carlos J. Almeciga-Diaz
Guest Editors

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. Journal of Personalized Medicine is an international peer-reviewed open access monthly 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 2600 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

  • inherited metabolic disorders
  • pathway signaling
  • organelle interactions
  • immunomodulators
  • antioxidants
  • gene therapy

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Published Papers (1 paper)

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Research

16 pages, 2552 KiB  
Article
Yeast-Produced Human Recombinant Lysosomal β-Hexosaminidase Efficiently Rescues GM2 Ganglioside Accumulation in Tay–Sachs Disease
by Orhan Kerim Inci, Andrés Felipe Leal, Nurselin Ates, Diego A. Súarez, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Diaz and Volkan Seyrantepe
J. Pers. Med. 2025, 15(5), 196; https://doi.org/10.3390/jpm15050196 - 10 May 2025
Viewed by 769
Abstract
Background: Tay–Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder characterized by the accumulation of GM2 ganglioside due to mutations in the HEXA gene, which encodes the α-subunit of β-Hexosaminidase A. This accumulation leads to significant neuropathological effects and premature death in [...] Read more.
Background: Tay–Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder characterized by the accumulation of GM2 ganglioside due to mutations in the HEXA gene, which encodes the α-subunit of β-Hexosaminidase A. This accumulation leads to significant neuropathological effects and premature death in affected individuals. No effective treatments exist, but enzyme replacement therapies are under investigation. In our previous work, we demonstrated the internalization and efficacy of human recombinant lysosomal β-hexosaminidase A (rhHex-A), produced in the methylotrophic yeast Pichia pastoris, in reducing lipids and lysosomal mass levels in fibroblasts and neural stem cells derived from patient-induced pluripotent stem cells (iPSCs). In this study, we further evaluated the potential of rhHex-A to prevent GM2 accumulation using fibroblast and neuroglia cells from a TSD patient alongside a relevant mouse model. Methods: Fibroblasts and neuroglial cell lines derived from a murine model and TSD patients were treated with 100 nM rhHexA for 72 h. After treatment, cells were stained by anti-GM2 (targeting GM2 ganglioside; KM966) and anti-LAMP1 (lysosomal-associated membrane protein 1) colocalization staining and incubated with 50 nM LysoTracker Red DND-99 to label lysosomes. In addition, GM2AP and HEXB expression were analyzed to assess whether rhHex-A treatment affected the levels of enzymes involved in GM2 ganglioside degradation. Results: Immunofluorescence staining for LysoTracker and colocalization studies of GM2 and Lamp1 indicated reduced lysosomal mass and GM2 levels. Notably, rhHex-A treatment also affected the expression of the HEXB gene, which is involved in GM2 ganglioside metabolism, highlighting a potential regulatory interaction within the metabolic pathway. Conclusions: Here, we report that rhHex-A produced in yeast can efficiently degrade GM2 ganglioside and rescue lysosomal accumulation in TSD cells. Full article
(This article belongs to the Special Issue Inborn Errors of Metabolism: From Pathomechanisms to Treatment)
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