Special Issue "Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies"

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 March 2021.

Special Issue Editors

Dr. Luigi Michele Pavone
Website
Guest Editor
Department Molecular Medicines and Medical Biotechnology, University of Naples Federico II, Via S Pansini 5, I-80131 Naples, Italy.
Interests: lysosomal storage diseases; mucopolysaccharidoses; heparan sulfate proteoglycans; growth factors; cytokine; cathepsin proteases; metabolism; autophagy; cell signaling; metabolic diseases
Dr. Valeria De Pasquale
Website
Guest Editor
Department of Veterinary Medicine and Animal Production, University of Naples Federico II, Unina, Italy
Interests: lysosomal storage diseases; mucopolysaccharidoses; heparan sulfate proteoglycans; growth factors; cytokine; cathepsin proteases; metabolism; autophagy; cell signalling; metabolic diseases

Special Issue Information

Dear Colleagues,

Lysosomal storage disorders (LSDs) are a group of about 50 inherited metabolic diseases that are characterized by the accumulation of undegraded products within the lysosomes, resulting in the formation of large intracellular vacuoles. Although individually rare, the lysosomal storage disorders as a group have a frequency of about 1/5000 live births, making this disease group a major challenge for the healthcare system.

Over the last two decades, there has been a huge expansion of investigations in the field of LSDs, which has greatly increased our understanding of their pathogenic mechanisms. These studies have disclosed the important role of the altered autophagy flux and mitochondrial function, which along with the stimulation of inflammatory responses appear to represent a common feature of many LSDs. In addition, the interplay between the accumulation/mislocalization of substrates and the alteration of many signaling pathways is also gaining attention in the context of LSDs. Despite that, current therapeutic options, mostly consisting of enzyme replacement therapies, are only available for a few LSDs. These therapies show poor efficacy to rescue the neurological manifestations. Hence, the identification and validation of novel therapeutic approaches exhibiting improved efficacy and the ability to target the central nervous system represent an absolute requirement.

This Special Issue is devoted to publishing results on any features of LSDs, including basic research on molecular mechanisms of LSDs, translational studies on novel therapies, and clinical investigations. Review articles on all these aspects are also welcome, as well as any study including the relationship between LSDs and more common neurodegenerative diseases such as Alzheimer’s or Parkinson’s. This Special Issue will provide a comprehensive view of the molecular aspects of various LSDs. We aim to provide a comprehensive update on LSDs and their pathomechanisms and therapeutic strategies. It comprehensively covers many areas in the LSDs field and could be of interest to a broad range of readers including physicians, scientists, students, pharmaceutical companies, and LSDs communities.

Dr. Luigi Michele Pavone
Dr. Valeria De Pasquale
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 papers will be 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. Biomedicines 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 2000 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

  • lysosomal storage disorders
  • novel therapies for genetic diseases
  • molecular diagnosis
  • biomarkers
  • substrate storage
  • autophagy
  • cell signaling
  • molecular mechanisms of genetic disorders
  • neurodegeneration
  • metabolic diseases

Published Papers (2 papers)

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Research

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Open AccessArticle
Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team
Biomedicines 2020, 8(10), 396; https://doi.org/10.3390/biomedicines8100396 - 07 Oct 2020
Cited by 1
Abstract
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a population of kidney recipients, [...] Read more.
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a population of kidney recipients, with a particular focus of the multidisciplinary approach for an early clinical assessment and therapeutic approach. Two hundred sixty-five kidney transplant recipients were screened with a genetic analysis for α-galactosidase A (GLA) mutation, with measurement of α-Gal A enzyme activity and Lyso Gb3 levels. Screening was also extended to relatives of affected patients. Seven patients (2.6%) had a GLA mutation. Two patients had a classic form of FD with Fabry nephropathy. Among the relatives, 15 subjects had a GLA mutation, and two had a Fabry nephropathy. The clinical and diagnostic assessment was completed after a median of 3.2 months, and mean time from diagnosis to treatment was 4.6 months. This study reported a high incidence of unrecognized GLA mutations in kidney transplant recipients. Evaluation and management by a multidisciplinary team allowed for an early diagnosis and treatment, and this would result in a delay in the progression of the disease and, finally, in better long-term outcomes. Full article

Review

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Open AccessReview
Transmissible Endosomal Intoxication: A Balance between Exosomes and Lysosomes at the Basis of Intercellular Amyloid Propagation
Biomedicines 2020, 8(8), 272; https://doi.org/10.3390/biomedicines8080272 - 04 Aug 2020
Cited by 1
Abstract
In Alzheimer′s disease (AD), endolysosomal dysfunctions are amongst the earliest cellular features to appear. Each organelle of the endolysosomal system, from the multivesicular body (MVB) to the lysosome, contributes to the homeostasis of amyloid precursor protein (APP) cleavage products including β-amyloid (Aβ) peptides. [...] Read more.
In Alzheimer′s disease (AD), endolysosomal dysfunctions are amongst the earliest cellular features to appear. Each organelle of the endolysosomal system, from the multivesicular body (MVB) to the lysosome, contributes to the homeostasis of amyloid precursor protein (APP) cleavage products including β-amyloid (Aβ) peptides. Hence, this review will attempt to disentangle how changes in the endolysosomal system cumulate to the generation of toxic amyloid species and hamper their degradation. We highlight that the formation of MVBs and the generation of amyloid species are closely linked and describe how the molecular machineries acting at MVBs determine the generation and sorting of APP cleavage products towards their degradation or release in association with exosomes. In particular, we will focus on AD-related distortions of the endolysomal system that divert it from its degradative function to favour the release of exosomes and associated amyloid species. We propose here that such an imbalance transposed at the brain scale poses a novel concept of transmissible endosomal intoxication (TEI). This TEI would initiate a self-perpetuating transmission of endosomal dysfunction between cells that would support the propagation of amyloid species in neurodegenerative diseases. Full article
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