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Biomarkers in Neoplastic and Degenerative CNS Diseases: Defining New Advances in Clinical Usefulness and Therapeutic Molecular Target

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: 31 July 2024 | Viewed by 929

Special Issue Editor

Special Issue Information

Dear Colleagues,

The search for biomarkers in neurodegenerative disease and central nervous system (CNS) cancer has become a high-interest research field in recent decades, attracting great attention from scientists worldwide.

Well-established molecules have been documented to display clinical usefulness in neurodegenerative diseases, as these have an impact on clinical practice, enabling diagnosis and prognosis and predicting therapy response. However, many concerns still remain about the use of some biomarkers, with many issues needing to be overcome. For instance, Alzheimer’s disease (AD) only benefits from cerebrospinal fluid-validated biomarkers, which unfortunately display some flaws: high costs, no serial repeatability and invasive procedures to collect samples. Also, despite many insights on the pathophysiology of AD, no biomarkers have been identified to be used as a valuable molecular target for disease-modifying treatment.

CNS cancer is currently diagnosed using expensive, time-consuming and invasive tools, including imaging and histochemical ones, with rare cases of blood biomarkers with established clinical usefulness. Hence, there is an urgent need for biomarkers to be detected using easy-to-collect fluids and low-cost, rapid instrumentations and methodologies.

This Special Issue aims to collect research articles on novel, reliable biomarkers for CNS neurodegenerative and neoplastic diseases in order to identify valuable molecules to be validated and used in clinical practice. Also, studies on molecules that can be used as therapeutic targets are encouraged. Papers reporting new methodologies for biomarkers’ measurement are welcome as well, along with review articles summarizing novel findings on this topic.

Dr. Giulia Bivona
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

  • Alzheimer’s disease
  • brain cancer
  • clinical usefulness
  • therapeutic target

Published Papers (1 paper)

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Research

18 pages, 2352 KiB  
Article
Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
by Pol Andrés-Benito, Juan Francisco Vázquez-Costa, Nancy Carolina Ñungo Garzón, María J. Colomina, Carla Marco, Laura González, Cristina Terrafeta, Raúl Domínguez, Isidro Ferrer and Mónica Povedano
Int. J. Mol. Sci. 2024, 25(7), 3810; https://doi.org/10.3390/ijms25073810 - 29 Mar 2024
Viewed by 655
Abstract
The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult SMA patients and their potential for monitoring the response to nusinersen. Biomarkers for neurodegenerative disorders were assessed in plasma and CSF samples obtained from a total of 30 healthy [...] Read more.
The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult SMA patients and their potential for monitoring the response to nusinersen. Biomarkers for neurodegenerative disorders were assessed in plasma and CSF samples obtained from a total of 30 healthy older adult controls and 31 patients with adult SMA type 2 and 3. The samples were collected before and during nusinersen treatment at various time points, approximately at 2, 6, 10, and 22 months. Using ELISA technology, the levels of total tau, pNF-H, NF-L, sAPPβ, Aβ40, Aβ42, and YKL-40 were evaluated in CSF samples. Additionally, plasma samples were used to measure NF-L and total tau levels using SIMOA technology. SMA patients showed improvements in clinical outcomes after nusinersen treatment, which were statistically significant only in walkers, in RULM (p = 0.04) and HFMSE (p = 0.05) at 24 months. A reduction in sAPPβ levels was found after nusinersen treatment, but these levels did not correlate with clinical outcomes. Other neurodegeneration biomarkers (NF-L, pNF-H, total tau, YKL-40, Aβ40, and Aβ42) were not found consistently changed with nusinersen treatment. The slow progression rate and mild treatment response of adult SMA types 2 and 3 may not lead to detectable changes in common markers of axonal degradation, inflammation, or neurodegeneration, since it does not involve large pools of damaged neurons as observed in pediatric forms. However, changes in biomarkers associated with the APP processing pathway might be linked to treatment administration. Further studies are warranted to better understand these findings. Full article
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