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Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0
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Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0

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: closed (15 September 2023) | Viewed by 15264

Special Issue Editor

Dr. Marwa Zafarullah

E-Mail Website
Guest Editor
College of Biological Sciences, University of California Davis, Davis, CA 95817, USA
Interests: neurodegenerative disorders; genetics; rare complex syndromes; FXTAS; genomics; biomarker discovery; FXS; next-generation sequencing; Intellectual disability
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Today, neurodevelopmental and neurodegenerative diseases represent significant causes of death in industrialized economies. The development of unique targeted therapeutics for these disorders faces many challenges, including the lack of biomarkers for early diagnosis and progression, complicated molecular mechanisms, heterogeneous phenotypes, limited historical data, and difficulty in assessing efficacy in clinical trials for which small patient populations limit enrollment. Thus, it is of importance to identify biomarkers that can provide fast, objective evidence for changes in underlying disease pathophysiology, which may, in turn, be used for clinical benefit.

It is our pleasure to announce a new Special Issue of the International Journal of Molecular Sciences on “Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0”. With this Special Issue, we intend to collect both original contributions and review articles focused on the:

  • Research directed at the development of molecular biomarkers for the early diagnosis and detection of the progression of neurodevelopmental or neurodegenerative disorders;
  • The investigation of the underlying molecular mechanisms, with the aim of identifying molecular signatures, leading to targeted therapeutics;
  • Research leading to new therapeutic approaches that could help in biomarker discovery and that are currently in clinical testing.

Since IJMS is a journal of molecular science, pure clinical studies will not be suitable; however, clinical submissions with biomolecular experiments focusing on the topics mentioned above are welcomed. We encourage you to reach out to us if you have any questions.

Dr. Marwa Zafarullah
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. 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

  • neurodevelopmental disorders
  • neurodegenerative disorders
  • biomarker discovery
  • molecular biology
  • human genetics

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Published Papers (5 papers)

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Research

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12 pages, 2214 KiB  
Article
Clinical Phenotypes of Progressive Supranuclear Palsy—The Differences in Interleukin Patterns
by Natalia Madetko-Alster, Dagmara Otto-Ślusarczyk, Alicja Wiercińska-Drapało, Dariusz Koziorowski, Stanisław Szlufik, Joanna Samborska-Ćwik, Marta Struga, Andrzej Friedman and Piotr Alster
Int. J. Mol. Sci. 2023, 24(20), 15135; https://doi.org/10.3390/ijms242015135 - 13 Oct 2023
Cited by 17 | Viewed by 1643
Abstract
Progressive supranuclear palsy (PSP) is an atypical parkinsonian syndrome based on tau pathology; its clinical phenotype differs, but PSP with Richardson’s syndrome (PSP-RS) and the PSP parkinsonism predominant (PSP-P) variant remain the two most common manifestations. Neuroinflammation is involved in the course of [...] Read more.
Progressive supranuclear palsy (PSP) is an atypical parkinsonian syndrome based on tau pathology; its clinical phenotype differs, but PSP with Richardson’s syndrome (PSP-RS) and the PSP parkinsonism predominant (PSP-P) variant remain the two most common manifestations. Neuroinflammation is involved in the course of the disease and may cause neurodegeneration. However, an up-to-date cytokine profile has not been assessed in different PSP phenotypes. This study aimed to evaluate possible differences in neuroinflammatory patterns between the two most common PSP phenotypes. Serum and cerebrospinal fluid (CSF) concentrations of interleukin-1 beta (IL-1β) and IL-6 were analyzed using enzyme-linked immunosorbent assay (ELISA) kits in 36 study participants—12 healthy controls and 24 patients with a clinical diagnosis of PSP-12 PSP-RS and 12 PSP-P. Disease duration among PSP patients ranged from three to six years. All participants underwent basic biochemical testing, and neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) values were calculated. Due to a lack of neuropathological examinations, as all patients remain alive, total tau levels were assessed in the CSF. Tau levels were significantly higher in the PSP-P and PSP-RS groups compared to the healthy controls. The lowest concentrations of serum and CSF interleukins were observed in PSP-RS patients, whereas PSP-P patients and healthy controls had significantly higher interleukin concentrations. Furthermore, there was a significant correlation between serum IL-6 levels and PLR in PSP-RS patients. The results indicate the existence of distinct neuroinflammatory patterns or a neuroprotective role of increased inflammatory activity, which could cause the differences between PSPS phenotypes and clinical course. The causality of the correlations described requires further studies to be confirmed. Full article
(This article belongs to the Special Issue Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0)
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16 pages, 2910 KiB  
Article
Blood Proteomics Analysis Reveals Potential Biomarkers and Convergent Dysregulated Pathways in Autism Spectrum Disorder: A Pilot Study
by Areej Mesleh, Hanan Ehtewish, Alberto de la Fuente, Hawra Al-shamari, Iman Ghazal, Fatema Al-Faraj, Fouad Al-Shaban, Houari B. Abdesselem, Mohamed Emara, Nehad M. Alajez, Abdelilah Arredouani, Julie Decock, Omar Albagha, Lawrence W. Stanton, Sara A. Abdulla and Omar M. A. El-Agnaf
Int. J. Mol. Sci. 2023, 24(8), 7443; https://doi.org/10.3390/ijms24087443 - 18 Apr 2023
Cited by 3 | Viewed by 4430
Abstract
Autism spectrum disorder (ASD) is an umbrella term that encompasses several disabling neurodevelopmental conditions. These conditions are characterized by impaired manifestation in social and communication skills with repetitive and restrictive behaviors or interests. Thus far, there are no approved biomarkers for ASD screening [...] Read more.
Autism spectrum disorder (ASD) is an umbrella term that encompasses several disabling neurodevelopmental conditions. These conditions are characterized by impaired manifestation in social and communication skills with repetitive and restrictive behaviors or interests. Thus far, there are no approved biomarkers for ASD screening and diagnosis; also, the current diagnosis depends heavily on a physician’s assessment and family’s awareness of ASD symptoms. Identifying blood proteomic biomarkers and performing deep blood proteome profiling could highlight common underlying dysfunctions between cases of ASD, given its heterogeneous nature, thus laying the foundation for large-scale blood-based biomarker discovery studies. This study measured the expression of 1196 serum proteins using proximity extension assay (PEA) technology. The screened serum samples included ASD cases (n = 91) and healthy controls (n = 30) between 6 and 15 years of age. Our findings revealed 251 differentially expressed proteins between ASD and healthy controls, of which 237 proteins were significantly upregulated and 14 proteins were significantly downregulated. Machine learning analysis identified 15 proteins that could be biomarkers for ASD with an area under the curve (AUC) = 0.876 using support vector machine (SVM). Gene Ontology (GO) analysis of the top differentially expressed proteins (TopDE) and weighted gene co-expression analysis (WGCNA) revealed dysregulation of SNARE vesicular transport and ErbB pathways in ASD cases. Furthermore, correlation analysis showed that proteins from those pathways correlate with ASD severity. Further validation and verification of the identified biomarkers and pathways are warranted. Full article
(This article belongs to the Special Issue Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0)
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14 pages, 4001 KiB  
Article
Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome
by E. Zmysłowska-Polakowska, T. Płoszaj, S. Skoczylas, P. Mojsak, M. Ciborowski, A. Kretowski, M. Lukomska-Szymanska, A. Szadkowska, W. Mlynarski and A. Zmysłowska
Int. J. Mol. Sci. 2023, 24(6), 5596; https://doi.org/10.3390/ijms24065596 - 15 Mar 2023
Cited by 3 | Viewed by 2296
Abstract
In Wolfram syndrome (WFS), due to the loss of wolframin function, there is increased ER stress and, as a result, progressive neurodegenerative disorders, accompanied by insulin-dependent diabetes. The aim of the study was to evaluate the oral microbiome and metabolome in WFS patients [...] Read more.
In Wolfram syndrome (WFS), due to the loss of wolframin function, there is increased ER stress and, as a result, progressive neurodegenerative disorders, accompanied by insulin-dependent diabetes. The aim of the study was to evaluate the oral microbiome and metabolome in WFS patients compared with patients with type 1 diabetes mellitus (T1DM) and controls. The buccal and gingival samples were collected from 12 WFS patients, 29 HbA1c-matched T1DM patients (p = 0.23), and 17 healthy individuals matched by age (p = 0.09) and gender (p = 0.91). The abundance of oral microbiota components was obtained by Illumina sequencing the 16S rRNA gene, and metabolite levels were measured by gas chromatography–mass spectrometry. Streptococcus (22.2%), Veillonella (12.1%), and Haemophilus (10.8%) were the most common bacteria in the WFS patients, while comparisons between groups showed significantly higher abundance of Olsenella, Dialister, Staphylococcus, Campylobacter, and Actinomyces in the WFS group (p < 0.001). An ROC curve (AUC = 0.861) was constructed for the three metabolites that best discriminated WFS from T1DM and controls (acetic acid, benzoic acid, and lactic acid). Selected oral microorganisms and metabolites that distinguish WFS patients from T1DM patients and healthy individuals may suggest their possible role in modulating neurodegeneration and serve as potential biomarkers and indicators of future therapeutic strategies. Full article
(This article belongs to the Special Issue Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0)
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15 pages, 2242 KiB  
Article
Sex-Specific Multiparameter Blood Test for the Early Diagnosis of Alzheimer’s Disease
by Hyung Joon Cho, Philip Schulz, Lalitha Venkataraman, Richard J. Caselli and Michael R. Sierks
Int. J. Mol. Sci. 2022, 23(24), 15670; https://doi.org/10.3390/ijms232415670 - 10 Dec 2022
Cited by 8 | Viewed by 2370
Abstract
Blood-based biomarkers are needed for the early diagnosis of Alzheimer’s disease (AD). We analyzed longitudinal human plasma samples from AD and control cases to identify biomarkers for the early diagnosis of AD. Plasma samples were grouped based on clinical diagnosis at the time [...] Read more.
Blood-based biomarkers are needed for the early diagnosis of Alzheimer’s disease (AD). We analyzed longitudinal human plasma samples from AD and control cases to identify biomarkers for the early diagnosis of AD. Plasma samples were grouped based on clinical diagnosis at the time of collection: AD, mild cognitive impairment (MCI), and pre-symptomatic (preMCI). Samples were analyzed by ELISA using a panel of reagents against nine different AD-related amyloid-β (Aβ), tau, or TDP-43 variants. Receiver operating characteristic (ROC) curves of different biomarker panels for different diagnostic sample groups were determined. Analysis of all of the samples gave a sensitivity of 92% and specificity of 76% for the diagnosis of AD. Early-stage diagnosis of AD, utilizing only the preMCI and MCI samples, identified 88% of AD cases. Using sex-biased biomarker panels, early diagnosis of AD cases improved to 96%. Using the sex-biased panels, we also identified 6 of the 25 control group cases as being at high risk of AD, which is consistent with what is expected given the advanced age of the control cases. Specific AD-associated protein variants are effective blood-based biomarkers for the early diagnosis of AD. Notably, significant differences were observed in biomarker profiles for the early detection of male and female AD cases. Full article
(This article belongs to the Special Issue Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0)
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Review

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12 pages, 2850 KiB  
Review
Peripheral Biomarkers in Manifest and Premanifest Huntington’s Disease
by Emanuele Morena, Carmela Romano, Martina Marconi, Selene Diamant, Maria Chiara Buscarinu, Gianmarco Bellucci, Silvia Romano, Daniela Scarabino, Marco Salvetti and Giovanni Ristori
Int. J. Mol. Sci. 2023, 24(7), 6051; https://doi.org/10.3390/ijms24076051 - 23 Mar 2023
Cited by 13 | Viewed by 3878
Abstract
Huntington’s disease (HD) is characterized by clinical motor impairment (e.g., involuntary movements, poor coordination, parkinsonism), cognitive deficits, and psychiatric symptoms. An inhered expansion of the CAG triplet in the huntingtin gene causing a pathogenic gain-of-function of the mutant huntingtin (mHTT) protein [...] Read more.
Huntington’s disease (HD) is characterized by clinical motor impairment (e.g., involuntary movements, poor coordination, parkinsonism), cognitive deficits, and psychiatric symptoms. An inhered expansion of the CAG triplet in the huntingtin gene causing a pathogenic gain-of-function of the mutant huntingtin (mHTT) protein has been identified. In this review, we focus on known biomarkers (e.g., mHTT, neurofilament light chains) and on new biofluid biomarkers that can be quantified in plasma or peripheral blood mononuclear cells from mHTT carriers. Circulating biomarkers may fill current unmet needs in HD management: better stratification of patients amenable to etiologic treatment; the initiation of preventive treatment in premanifest HD; and the identification of peripheral pathogenic central nervous system cascades. Full article
(This article belongs to the Special Issue Molecular Biomarkers in Neurodevelopmental and Neurodegenerative Disorders 2.0)
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