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Neurometabolic Disorders in the Adults

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Dr. Klary Niezen-Koning

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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

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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

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Keywords

Neurometabolic
Metabolic/biochemical pathways
Genetic defects
Pathological phenotypes

Published Papers (2 papers)

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Research

14 pages, 2695 KiB

Open AccessArticle

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 - 06 Sep 2023

Cited by 1 | Viewed by 2957

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 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)

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15 pages, 1241 KiB

Open AccessArticle

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 1 | Viewed by 2028

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 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)

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