Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
9.0
4.9
Journals
IJMS
Special Issues
Neurometabolic Disorders in the Adults
ijms-logo
Submit to Special Issue Submit Abstract to Special Issue Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Neurometabolic Disorders in the Adults

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 20 July 2025 | Viewed by 12729

Special Issue Editors

Dr. Klary Niezen-Koning

E-Mail Website
Guest Editor
Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands
Interests: fatty acid oxidation; oxidative phosphorylation; mitochondrial dysfunction; mitochondrial metabolism; neurometabolic disorders; DNA methylation
Prof. Dr. Tom J. de Koning

E-Mail Website
Guest Editor
Pediatrics, Department of Clinical Sciences, Lund University, Sölvegatan 19-BMC F12, 221 84 Lund, Sweden
Interests: metabolic diseases, movement disorders, neurogenetics, next generation sequencing

Special Issue Information

Dear Colleagues,

Neurometabolic disorders are a collection of pathological and biochemical circumstances/conditions that affect human metabolism, as well as brain function. Distinct traits of these disorders often emerge at different developmental time points, and the appearance of these manifestations is also age related. The origin can vary, and can affect any organ in the body, frequently involving two or more organ systems. Neurometabolic disorders are common, and are frequently underdiagnosed or misunderstood. Aside from the known disorders, the recently described disorders, i.e., complex lipid biosynthesis and remodeling defects, or congenital disorders of autophagy, emphasize the need to look beyond a single biochemical pathway and/or organelle. This means that the compartmentalized organization and interconnections of neurons and non-neuronal cells need to be better understood, as well as that studying the entire brain (connecting different levels of complexity) is mandatory.

The contributions to this Special Issue will provide new insights into eurometabolic disorders. They will aid in creating novel therapeutic approaches, spanning from molecular to nutritional interventions, by combining approaches at biochemical and molecular levels.

Original research articles and topical reviews on these topics, as well as related topics, are welcome in this Special Issue.

Dr. Klary Niezen-Koning
Prof. Dr. Tom J. de Koning
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. 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

  • Neurometabolic
  • Metabolic/biochemical pathways
  • Genetic defects
  • Pathological phenotypes

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (4 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

35 pages, 49743 KiB  
Article
Proteomics Analysis of Proteotoxic Stress Response in In-Vitro Human Neuronal Models
by Ayodele Alaiya, Bothina Mohammed Alharbi, Zakia Shinwari, Mamoon Rashid, Tahani H. Albinhassan, Abderrezak Bouchama, Mai B. Alwesmi, Sameer Mohammad and Shuja Shafi Malik
Int. J. Mol. Sci. 2024, 25(12), 6787; https://doi.org/10.3390/ijms25126787 - 20 Jun 2024
Viewed by 2328
Abstract
Heat stroke, a hazardous hyperthermia-related illness, is characterized by CNS injury, particularly long-lasting brain damage. A root cause for hyperthermic neurological damage is heat-induced proteotoxic stress through protein aggregation, a known causative agent of neurological disorders. Stress magnitude and enduring persistence are highly [...] Read more.
Heat stroke, a hazardous hyperthermia-related illness, is characterized by CNS injury, particularly long-lasting brain damage. A root cause for hyperthermic neurological damage is heat-induced proteotoxic stress through protein aggregation, a known causative agent of neurological disorders. Stress magnitude and enduring persistence are highly correlated with hyperthermia-associated neurological damage. We used an untargeted proteomic approach using liquid chromatography–tandem mass spectrometry (LC-MS/MS) to identify and characterize time-series proteome-wide changes in dose-responsive proteotoxic stress models in medulloblastoma [Daoy], neuroblastoma [SH-SY5Y], and differentiated SH-SY5Y neuron-like cells [SH(D)]. An integrated analysis of condition–time datasets identified global proteome-wide differentially expressed proteins (DEPs) as part of the heat-induced proteotoxic stress response. The condition-specific analysis detected higher DEPs and upregulated proteins in extreme heat stress with a relatively conservative and tight regulation in differentiated SH-SY5Y neuron-like cells. Functional network analysis using ingenuity pathway analysis (IPA) identified common intercellular pathways associated with the biological processes of protein, RNA, and amino acid metabolism and cellular response to stress and membrane trafficking. The condition-wise temporal pathway analysis in the differentiated neuron-like cells detects a significant pathway, functional, and disease association of DEPs with processes like protein folding and protein synthesis, Nervous System Development and Function, and Neurological Disease. An elaborate dose-dependent stress-specific and neuroprotective cellular signaling cascade is also significantly activated. Thus, our study provides a comprehensive map of the heat-induced proteotoxic stress response associating proteome-wide changes with altered biological processes. This helps to expand our understanding of the molecular basis of the heat-induced proteotoxic stress response with potential translational connotations. Full article
(This article belongs to the Special Issue Neurometabolic Disorders in the Adults)
►▼ Show Figures

Figure 1

14 pages, 2695 KiB  
Article
A Multiplexed Urinary Biomarker Panel Has Potential for Alzheimer’s Disease Diagnosis Using Targeted Proteomics and Machine Learning
by Jenny Hällqvist, Rui C. Pinto, Wendy E. Heywood, Jonjo Cordey, Alexander J. M. Foulkes, Catherine F. Slattery, Claire A. Leckey, Eimear C. Murphy, Henrik Zetterberg, Jonathan M. Schott, Kevin Mills and Ross W. Paterson
Int. J. Mol. Sci. 2023, 24(18), 13758; https://doi.org/10.3390/ijms241813758 - 6 Sep 2023
Cited by 3 | Viewed by 4509
Abstract
As disease-modifying therapies are now available for Alzheimer’s disease (AD), accessible, accurate and affordable biomarkers to support diagnosis are urgently needed. We sought to develop a mass spectrometry-based urine test as a high-throughput screening tool for diagnosing AD. We collected urine from a [...] Read more.
As disease-modifying therapies are now available for Alzheimer’s disease (AD), accessible, accurate and affordable biomarkers to support diagnosis are urgently needed. We sought to develop a mass spectrometry-based urine test as a high-throughput screening tool for diagnosing AD. We collected urine from a discovery cohort (n = 11) of well-characterised individuals with AD (n = 6) and their asymptomatic, CSF biomarker-negative study partners (n = 5) and used untargeted proteomics for biomarker discovery. Protein biomarkers identified were taken forward to develop a high-throughput, multiplexed and targeted proteomic assay which was tested on an independent cohort (n = 21). The panel of proteins identified are known to be involved in AD pathogenesis. In comparing AD and controls, a panel of proteins including MIEN1, TNFB, VCAM1, REG1B and ABCA7 had a classification accuracy of 86%. These proteins have been previously implicated in AD pathogenesis. This suggests that urine-targeted mass spectrometry has potential utility as a diagnostic screening tool in AD. Full article
(This article belongs to the Special Issue Neurometabolic Disorders in the Adults)
►▼ Show Figures

Figure 1

15 pages, 1241 KiB  
Article
Gut Microbiome Composition in Dystonia Patients
by Elze R. Timmers, J. Casper Swarte, Ranko Gacesa, Johannes R. Björk, Rinse K. Weersma, Marina A. J. Tijssen, Tom J. de Koning, Hermie J. M. Harmsen and Klary E. Niezen-Koning
Int. J. Mol. Sci. 2023, 24(3), 2383; https://doi.org/10.3390/ijms24032383 - 25 Jan 2023
Cited by 2 | Viewed by 3298
Abstract
Dystonia is a movement disorder in which patients have involuntary abnormal movements or postures. Non-motor symptoms, such as psychiatric symptoms, sleep problems and fatigue, are common. We hypothesise that the gut microbiome might play a role in the pathophysiology of the (non-)motor symptoms [...] Read more.
Dystonia is a movement disorder in which patients have involuntary abnormal movements or postures. Non-motor symptoms, such as psychiatric symptoms, sleep problems and fatigue, are common. We hypothesise that the gut microbiome might play a role in the pathophysiology of the (non-)motor symptoms in dystonia via the gut–brain axis. This exploratory study investigates the composition of the gut microbiome in dystonia patients compared to healthy controls. Furthermore, the abundance of neuro-active metabolic pathways, which might be implicated in the (non-)motor symptoms, was investigated. We performed both metagenomic and 16S rRNA sequencing on the stool samples of three subtypes of dystonia (27 cervical dystonia, 20 dopa-responsive dystonia and 24 myoclonus-dystonia patients) and 25 controls. While microbiome alpha and beta diversity was not different between dystonia patients and controls, dystonia patients had higher abundances of Ruminococcus torques and Dorea formicigenerans, and a lower abundance of Butyrivibrio crossotus compared to controls. For those with dystonia, non-motor symptoms and the levels of neurotransmitters in plasma explained the variance in the gut microbiome composition. Several neuro-active metabolic pathways, especially tryptophan degradation, were less abundant in the dystonia patients compared to controls. This suggest that the gut–brain axis might be involved in the pathophysiology of dystonia. Further studies are necessary to confirm our preliminary findings. Full article
(This article belongs to the Special Issue Neurometabolic Disorders in the Adults)
►▼ Show Figures

Figure 1

Review

Jump to: Research

27 pages, 2749 KiB  
Review
Small Heat Shock Proteins: Protein Aggregation Amelioration and Neuro- and Age-Protective Roles
by Tahani H. Albinhassan, Bothina Mohammed Alharbi, Entissar S. AlSuhaibani, Sameer Mohammad and Shuja Shafi Malik
Int. J. Mol. Sci. 2025, 26(4), 1525; https://doi.org/10.3390/ijms26041525 - 11 Feb 2025
Cited by 1 | Viewed by 1351
Abstract
Protein misfolding, aggregation, and aberrant aggregate accumulation play a central role in neurodegenerative disease progression. The proteotoxic factors also govern the aging process to a large extent. Molecular chaperones modulate proteostasis and thereby impact aberrant-protein-induced proteotoxicity. These chaperones have a diverse functional spectrum, [...] Read more.
Protein misfolding, aggregation, and aberrant aggregate accumulation play a central role in neurodegenerative disease progression. The proteotoxic factors also govern the aging process to a large extent. Molecular chaperones modulate proteostasis and thereby impact aberrant-protein-induced proteotoxicity. These chaperones have a diverse functional spectrum, including nascent protein folding, misfolded protein sequestration, refolding, or degradation. Small heat shock proteins (sHsps) possess an ATP-independent chaperone-like activity that prevents protein aggregation by keeping target proteins in a folding-competent state to be refolded by ATP-dependent chaperones. Due to their near-universal upregulation and presence in sites of proteotoxic stress like diseased brains, sHsps were considered pathological. However, gene knockdown and overexpression studies have established their protective functions. This review provides an updated overview of the sHsp role in protein aggregation amelioration and highlights evidence for sHsp modulation of neurodegenerative disease-related protein aggregation and aging. Full article
(This article belongs to the Special Issue Neurometabolic Disorders in the Adults)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-4
Back to TopTop