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Metabolites
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Hunting of Huntington's Disease
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Hunting of Huntington's Disease

A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Cell Metabolism".

Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 4939

Special Issue Editors

Dr. Marta Tomczyk

E-Mail Website
Guest Editor
Department of Biochemistry, Faculty of Medicine, Medical University of Gdansk, Gdansk, Poland
Interests: energy metabolism; animal models; huntington’s disease; neurodegener-ative diseases; heart; skeletal muscle
Special Issues, Collections and Topics in MDPI journals
Dr. Talita Glaser

E-Mail Website
Guest Editor
Department of Biochemistry, Institute of Chemistry, University of São Paulo, São Paulo 05508-000, Brazil
Interests: neurodegeneration; stem cells; purinergic signaling; Huntington’s disease, neurodevelopment
Dr. Karolina Pierzynowska

E-Mail Website
Guest Editor
Department of Molecular Biology, University of Gdansk, 80-308 Gdansk, Poland
Interests: human diseases; neurodegeneration; molecular mechanisms; signaling pathways, cell biology; autophagy; ferroptosis

Special Issue Information

Dear Colleagues,

Huntington’s disease (HD) is a multisystem disorder with fatal neurodegenerative outcomes. It is caused by expanded CAG repeats within the exon-1 of the huntingtin (HTT) gene. The elongation of the polyglutamine stretch in exon 1 HTT leads to the formation of insoluble huntingtin aggregates, which are observed in both the early and advanced stages of the disease. In the CNS, mHTT mainly affects the basal ganglia region of the encephalon; this is the main region for voluntary and involuntary motor control, as well as cognition. This mutant protein sensitizes GABAergic neurons, making them vulnerable to NDMA-induced excitotoxicity, leading to cell death. Aggregates of the mutated form of HTT (mHTT) have been identified in the brain, as well as the outside central nervous system, e.g., in skeletal muscle. Despite the discovery of this genetic mutation 39 years ago, no effective treatment has yet emerged. This, in part, is related to the disease's complexity.

This Special Issue will highlight new insights into the molecular mechanisms involved in the pathophysiology of HD and HD-related disorders. Moreover, studies that focus on the identification of HD biomarkers, therapeutic targets, and future treatments are also welcome.

Dr. Marta Tomczyk
Dr. Talita Glaser
Dr. Karolina Pierzynowska
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. Metabolites 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 2700 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

  • Huntington’s disease
  • molecular mechanisms
  • biomarker
  • therapy

Published Papers (2 papers)

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Review

37 pages, 3316 KiB  
Review
Metabolomics: An Emerging “Omics” Platform for Systems Biology and Its Implications for Huntington Disease Research
by Sumeyya Akyol, Nadia Ashrafi, Ali Yilmaz, Onur Turkoglu and Stewart F. Graham
Metabolites 2023, 13(12), 1203; https://doi.org/10.3390/metabo13121203 - 18 Dec 2023
Cited by 1 | Viewed by 1797
Abstract
Huntington’s disease (HD) is a progressive, fatal neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. The precise mechanisms of HD progression are poorly understood; however, it is known that there is an expansion of the trinucleotide cytosine-adenine-guanine (CAG) repeat in the Huntingtin [...] Read more.
Huntington’s disease (HD) is a progressive, fatal neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. The precise mechanisms of HD progression are poorly understood; however, it is known that there is an expansion of the trinucleotide cytosine-adenine-guanine (CAG) repeat in the Huntingtin gene. Important new strategies are of paramount importance to identify early biomarkers with predictive value for intervening in disease progression at a stage when cellular dysfunction has not progressed irreversibly. Metabolomics is the study of global metabolite profiles in a system (cell, tissue, or organism) under certain conditions and is becoming an essential tool for the systemic characterization of metabolites to provide a snapshot of the functional and pathophysiological states of an organism and support disease diagnosis and biomarker discovery. This review briefly highlights the historical progress of metabolomic methodologies, followed by a more detailed review of the use of metabolomics in HD research to enable a greater understanding of the pathogenesis, its early prediction, and finally the main technical platforms in the field of metabolomics. Full article
(This article belongs to the Special Issue Hunting of Huntington's Disease)
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35 pages, 3551 KiB  
Review
Metabolomic Footprint of Disrupted Energetics and Amino Acid Metabolism in Neurodegenerative Diseases: Perspectives for Early Diagnosis and Monitoring of Therapy
by Patrycja Maszka, Magdalena Kwasniak-Butowska, Dominik Cysewski, Jaroslaw Slawek, Ryszard T. Smolenski and Marta Tomczyk
Metabolites 2023, 13(3), 369; https://doi.org/10.3390/metabo13030369 - 1 Mar 2023
Cited by 5 | Viewed by 2694
Abstract
The prevalence of neurodegenerative diseases (NDs) is increasing due to the aging population and improved longevity. They are characterized by a range of pathological hallmarks, including protein aggregation, mitochondrial dysfunction, and oxidative stress. The aim of this review is to summarize the alterations [...] Read more.
The prevalence of neurodegenerative diseases (NDs) is increasing due to the aging population and improved longevity. They are characterized by a range of pathological hallmarks, including protein aggregation, mitochondrial dysfunction, and oxidative stress. The aim of this review is to summarize the alterations in brain energy and amino acid metabolism in Alzheimer’s disease (AD), Parkinson’s disease (PD), and Huntington’s disease (HD). Based on our findings, we proposed a group of selected metabolites related to disturbed energy or mitochondrial metabolism as potential indicators or predictors of disease. We also discussed the hidden challenges of metabolomics studies in NDs and proposed future directions in this field. We concluded that biochemical parameters of brain energy metabolism disruption (obtained with metabolomics) may have potential application as a diagnostic tool for the diagnosis, prediction, and monitoring of the effectiveness of therapies for NDs. However, more studies are needed to determine the sensitivity of the proposed candidates. We suggested that the most valuable biomarkers for NDs studies could be groups of metabolites combined with other neuroimaging or molecular techniques. To attain clinically applicable results, the integration of metabolomics with other “omic” techniques might be required. Full article
(This article belongs to the Special Issue Hunting of Huntington's Disease)
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