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Biomedicines
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Molecular Basis of Neurodegenerative Diseases
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Molecular Basis of Neurodegenerative Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 18351

Special Issue Editor

Dr. Carolina Alquezar Burillo

E-Mail Website
Guest Editor
Research Institute “Hospital 12 de Octubre” (i+12), Madrid, Spain
Interests: neurodegeneration; Tau; TDP-43; patient-derived cell cultures; iPSC

Special Issue Information

Dear Colleagues,

Neurodegenerative diseases comprise a heterogeneous group of disorders characterized by the progressive degeneration of the structure and function of the central nervous system or peripheral nervous system. Among these, Alzheimer's disease and Parkinson's disease are the most common neurodegenerative diseases. Furthermore, the prevalence of other syndromes as Huntington’s disease, amyotrophic lateral sclerosis and frontotemporal dementia has increased dramatically over the past few decades. Currently, there are no treatments to cure or slow the disease progression, and while approved medications alleviate symptoms, they do not address the cause of the disease. Understanding the molecular basis of neurodegenerative diseases is essential to identify new molecular targets and develop effective treatments to cure and/or prevent these devastating diseases. This Biomedicines Special Issue, “Molecular Basis of Neurodegenerative Diseases”, aims to publish original and/or review articles covering the state of the art and new perspectives in this field. We are inviting authors to submit manuscripts exploring the pathogenic commonalities and differences among neurodegenerative diseases and those presenting new prospects for biomarkers, molecular targets and therapeutics. Original articles using cutting-edge models of study, such as iPSC-derived neurons and brain organoids, are highly encouraged. We expect that this issue will provide an update on this rapidly advancing area of investigation, presenting an invaluable resource for researchers in the field. Authors are invited to submit both original and review articles related, but not limited to, the topics presented above.

Dr. Carolina Alquezar Burillo
Guest Editor

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. 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 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

  • neurodegenerative disorders
  • molecular and therapeutic targets
  • biomarkers
  • protein aggregation
  • protein degradation
  • molecular pathways
  • iPSC-derived neurons
  • iPSC-derived brain organoids
  • patient-derived models
  • animal models

Published Papers (6 papers)

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Research

Jump to: Review

11 pages, 3125 KiB  
Article
The Y831C Mutation of the POLG Gene in Dementia
by Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Giuseppe Lanza, Mariagiovanna Cantone, Raffaele Ferri and Carmela Scuderi
Biomedicines 2023, 11(4), 1172; https://doi.org/10.3390/biomedicines11041172 - 13 Apr 2023
Cited by 1 | Viewed by 1395
Abstract
Background: The POLG gene encodes the catalytic subunit of DNA polymerase γ, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and is associated with several clinical presentations, such as dysarthria and ophthalmoplegia (SANDO), progressive [...] Read more.
Background: The POLG gene encodes the catalytic subunit of DNA polymerase γ, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and is associated with several clinical presentations, such as dysarthria and ophthalmoplegia (SANDO), progressive external ophthalmoplegia (PEO), spinocerebellar ataxia and epilepsy (SCAE), Alpers syndrome, and sensory ataxic neuropathy. Recent evidence has also indicated that POLG mutations may be involved in some neurodegenerative disorders, although systematic screening is currently lacking. Methods: To investigate the frequency of POLG gene mutations in neurodegenerative disorders, we screened a group of 33 patients affected by neurodegenerative diseases, including Parkinson’s disease, some atypical parkinsonisms, and dementia of different types. Results: Mutational analysis revealed the presence of the heterozygous Y831C mutation in two patients, one with frontotemporal dementia and one with Lewy body dementia. The allele frequency of this mutation reported by the 1000 Genomes Project in the healthy population is 0.22%, while in our group of patients, it was 3.03%, thus showing a statistically significant difference between the two groups. Conclusions: Our results may expand the genotype-phenotype spectrum associated with mutations in the POLG gene and strengthen the hypothesis of a pathogenic role of the Y831C mutation in neurodegeneration. Full article
(This article belongs to the Special Issue Molecular Basis of Neurodegenerative Diseases)
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14 pages, 3253 KiB  
Article
Platelets’ Nanomechanics and Morphology in Neurodegenerative Pathologies
by Velichka Strijkova, Svetla Todinova, Tonya Andreeva, Ariana Langari, Desislava Bogdanova, Elena Zlatareva, Nikolay Kalaydzhiev, Ivan Milanov and Stefka G. Taneva
Biomedicines 2022, 10(9), 2239; https://doi.org/10.3390/biomedicines10092239 - 09 Sep 2022
Cited by 5 | Viewed by 1629
Abstract
The imaging and force–distance curve modes of atomic force microscopy (AFM) are explored to compare the morphological and mechanical signatures of platelets from patients diagnosed with classical neurodegenerative diseases (NDDs) and healthy individuals. Our data demonstrate the potential of AFM to distinguish between [...] Read more.
The imaging and force–distance curve modes of atomic force microscopy (AFM) are explored to compare the morphological and mechanical signatures of platelets from patients diagnosed with classical neurodegenerative diseases (NDDs) and healthy individuals. Our data demonstrate the potential of AFM to distinguish between the three NDDs—Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD), and normal healthy platelets. The common features of platelets in the three pathologies are reduced membrane surface roughness, area and height, and enhanced nanomechanics in comparison with healthy cells. These changes might be related to general phenomena associated with reorganization in the platelet membrane morphology and cytoskeleton, a key factor for all platelets’ functions. Importantly, the platelets’ signatures are modified to a different extent in the three pathologies, most significant in ALS, less pronounced in PD and the least in AD platelets, which shows the specificity associated with each pathology. Moreover, different degree of activation, distinct pseudopodia and nanocluster formation characterize ALS, PD and AD platelets. The strongest alterations in the biophysical properties correlate with the highest activation of ALS platelets, which reflect the most significant changes in their nanoarchitecture. The specific platelet signatures that mark each of the studied pathologies can be added as novel biomarkers to the currently used diagnostic tools. Full article
(This article belongs to the Special Issue Molecular Basis of Neurodegenerative Diseases)
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21 pages, 5466 KiB  
Article
Critical Role of Neuronal Vps35 in Blood Vessel Branching and Maturation in Developing Mouse Brain
by Yang Zhao, Daehoon Lee, Xiao-Juan Zhu and Wen-Cheng Xiong
Biomedicines 2022, 10(7), 1653; https://doi.org/10.3390/biomedicines10071653 - 09 Jul 2022
Cited by 1 | Viewed by 1796
Abstract
Vps35 (vacuolar protein sorting 35), a key component of retromer, plays a crucial role in selective retrieval of transmembrane proteins from endosomes to trans-Golgi networks. Dysfunctional Vps35/retromer is a risk factor for the development of neurodegenerative diseases. Vps35 is highly expressed in developing [...] Read more.
Vps35 (vacuolar protein sorting 35), a key component of retromer, plays a crucial role in selective retrieval of transmembrane proteins from endosomes to trans-Golgi networks. Dysfunctional Vps35/retromer is a risk factor for the development of neurodegenerative diseases. Vps35 is highly expressed in developing pyramidal neurons, both in the mouse neocortex and hippocampus, Although embryonic neuronal Vps35’s function in promoting neuronal terminal differentiation and survival is evident, it remains unclear whether and how neuronal Vps35 communicates with other types of brain cells, such as blood vessels (BVs), which are essential for supplying nutrients to neurons. Dysfunctional BVs contribute to the pathogenesis of various neurodegenerative disorders. Here, we provide evidence for embryonic neuronal Vps35 as critical for BV branching and maturation in the developing mouse brain. Selectively knocking out (KO) Vps35 in mouse embryonic, not postnatal, neurons results in reductions in BV branching and density, arteriole diameter, and BV-associated pericytes and microglia but an increase in BV-associated reactive astrocytes. Deletion of microglia by PLX3397 enhances these BV deficits in mutant mice. These results reveal the function of neuronal Vps35 in neurovascular coupling in the developing mouse brain and implicate BV-associated microglia as underlying this event. Full article
(This article belongs to the Special Issue Molecular Basis of Neurodegenerative Diseases)
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Review

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19 pages, 1005 KiB  
Review
Role of Sirtuins in Physiology and Diseases of the Central Nervous System
by Justyna Chojdak-Łukasiewicz, Anna Bizoń, Marta Waliszewska-Prosół, Agnieszka Piwowar, Sławomir Budrewicz and Anna Pokryszko-Dragan
Biomedicines 2022, 10(10), 2434; https://doi.org/10.3390/biomedicines10102434 - 29 Sep 2022
Cited by 7 | Viewed by 1747
Abstract
Silent information regulators, sirtuins (SIRTs), are a family of enzymes which take part in major posttranslational modifications of proteins and contribute to multiple cellular processes, including metabolic and energetic transformations, as well as regulation of the cell cycle. Recently, SIRTs have gained increased [...] Read more.
Silent information regulators, sirtuins (SIRTs), are a family of enzymes which take part in major posttranslational modifications of proteins and contribute to multiple cellular processes, including metabolic and energetic transformations, as well as regulation of the cell cycle. Recently, SIRTs have gained increased attention as the object of research because of their multidirectional activity and possible role in the complex pathomechanisms underlying human diseases. The aim of this study was to review a current literature evidence of SIRTs’ role in the physiology and pathology of the central nervous system (CNS). SIRTs have been demonstrated to be crucial players in the crosstalk between neuroinflammation, neurodegeneration, and metabolic alterations. The elucidation of SIRTs’ role in the background of various CNS diseases offers a chance to define relevant markers of their progression and promising candidates for novel therapeutic targets. Possible diagnostic and therapeutic implications from SIRTs-related investigations are discussed, as well as their future directions and associated challenges. Full article
(This article belongs to the Special Issue Molecular Basis of Neurodegenerative Diseases)
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25 pages, 2326 KiB  
Review
Biomarkers of Neurodegenerative Diseases: Biology, Taxonomy, Clinical Relevance, and Current Research Status
by Dorota Koníčková, Kateřina Menšíková, Lucie Tučková, Eva Hényková, Miroslav Strnad, David Friedecký, David Stejskal, Radoslav Matěj and Petr Kaňovský
Biomedicines 2022, 10(7), 1760; https://doi.org/10.3390/biomedicines10071760 - 21 Jul 2022
Cited by 24 | Viewed by 3573
Abstract
The understanding of neurodegenerative diseases, traditionally considered to be well-defined entities with distinguishable clinical phenotypes, has undergone a major shift over the last 20 years. The diagnosis of neurodegenerative diseases primarily requires functional brain imaging techniques or invasive tests such as lumbar puncture [...] Read more.
The understanding of neurodegenerative diseases, traditionally considered to be well-defined entities with distinguishable clinical phenotypes, has undergone a major shift over the last 20 years. The diagnosis of neurodegenerative diseases primarily requires functional brain imaging techniques or invasive tests such as lumbar puncture to assess cerebrospinal fluid. A new biological approach and research efforts, especially in vivo, have focused on biomarkers indicating underlying proteinopathy in cerebrospinal fluid and blood serum. However, due to the complexity and heterogeneity of neurodegenerative processes within the central nervous system and the large number of overlapping clinical diagnoses, identifying individual proteinopathies is relatively difficult and often not entirely accurate. For this reason, there is an urgent need to develop laboratory methods for identifying specific biomarkers, understand the molecular basis of neurodegenerative disorders and classify the quantifiable and readily available tools that can accelerate efforts to translate the knowledge into disease-modifying therapies that can improve and simplify the areas of differential diagnosis, as well as monitor the disease course with the aim of estimating the prognosis or evaluating the effects of treatment. The aim of this review is to summarize the current knowledge about clinically relevant biomarkers in different neurodegenerative diseases. Full article
(This article belongs to the Special Issue Molecular Basis of Neurodegenerative Diseases)
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35 pages, 1811 KiB  
Review
Molecular Pathophysiological Mechanisms in Huntington’s Disease
by Anamaria Jurcau
Biomedicines 2022, 10(6), 1432; https://doi.org/10.3390/biomedicines10061432 - 17 Jun 2022
Cited by 30 | Viewed by 7315
Abstract
Huntington’s disease is an inherited neurodegenerative disease described 150 years ago by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG repeat on exon 1 of the huntingtin gene located on chromosome 4. In the following almost 30 [...] Read more.
Huntington’s disease is an inherited neurodegenerative disease described 150 years ago by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG repeat on exon 1 of the huntingtin gene located on chromosome 4. In the following almost 30 years, a considerable amount of research, using mainly animal models or in vitro experiments, has tried to unravel the complex molecular cascades through which the transcription of the mutant protein leads to neuronal loss, especially in the medium spiny neurons of the striatum, and identified excitotoxicity, transcriptional dysregulation, mitochondrial dysfunction, oxidative stress, impaired proteostasis, altered axonal trafficking and reduced availability of trophic factors to be crucial contributors. This review discusses the pathogenic cascades described in the literature through which mutant huntingtin leads to neuronal demise. However, due to the ubiquitous presence of huntingtin, astrocytes are also dysfunctional, and neuroinflammation may additionally contribute to Huntington’s disease pathology. The quest for therapies to delay the onset and reduce the rate of Huntington’s disease progression is ongoing, but is based on findings from basic research. Full article
(This article belongs to the Special Issue Molecular Basis of Neurodegenerative Diseases)
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