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Brain Sciences
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Molecular and Cellular Research in Neurodegenerative Diseases
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Molecular and Cellular Research in Neurodegenerative Diseases

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neurodegenerative Diseases".

Deadline for manuscript submissions: closed (25 April 2026) | Viewed by 8564

Special Issue Editor

Dr. Kallirhoe Kalinderi

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Guest Editor
1. Department of Biomedical Sciences, School of Health Sciences, International Hellenic University, 5400 Thessaloniki, Greece
2. Laboratory of Medical Biology-Genetics, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece
Interests: genetics; neurodegeneration; Parkinson’s disease; Alzheimer’s disease; biomarkers; pharmacogenetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurodegenerative diseases (NDs) are characterized by the progressive loss of selectively vulnerable neuronal populations. NDs include a wide range of diseases, including Parkinson’s disease (PD), Alzheimer’s disease (AD), Huntington’s disease (HD) and amyotrophic lateral sclerosis (ALS). As the global population ages, the prevalence of NDs is increasing, with major health, social and economic impacts worldwide. Despite significant research efforts, the pathophysiology of NDs still remains elusive.

This Special Issue is focused on the genetic, biochemical, cellular and pathological characteristics of NDs. We are particularly interested in original articles, reviews, case reports and meta-analyses that provide new insights into the molecular and cellular mechanisms associated with NDs, aiming to better understand the pathogenesis of NDs, recognize disease susceptibility and facilitate diagnosis, prediction and therapy in these chronic, debilitating diseases.

Dr. Kallirhoe Kalinderi
Guest Editor

Manuscript Submission Information

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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. Brain Sciences 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 2200 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 diseases
  • Parkinson’s disease
  • Alzheimer’s disease
  • Huntington’s disease
  • amyotrophic lateral sclerosis
  • gene
  • mechanism
  • molecular
  • cellular
  • pathophysiology

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Published Papers (5 papers)

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Research

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14 pages, 11353 KB  
Article
Intracranial Pressure Reduction Is Associated with Mitochondrial OPA1 and Cytochrome c Release in the Retinas of AQP1-Null Mice
by Zheng Zhang, Shen Wu, Kegao Liu, Jingxue Zhang, Qian Liu, Ningli Wang and Hai Xue
Brain Sci. 2026, 16(5), 470; https://doi.org/10.3390/brainsci16050470 - 28 Apr 2026
Viewed by 254
Abstract
Background: Recent studies strongly suggest that low intracranial pressure (ICP) may be involved in the pathogenesis of glaucomatous optic neuropathy. As retinal ganglion cells (RGCs) are highly susceptible to mitochondrial dysfunction, mitochondrial injury may be associated with optic neuropathy related to reduced ICP. [...] Read more.
Background: Recent studies strongly suggest that low intracranial pressure (ICP) may be involved in the pathogenesis of glaucomatous optic neuropathy. As retinal ganglion cells (RGCs) are highly susceptible to mitochondrial dysfunction, mitochondrial injury may be associated with optic neuropathy related to reduced ICP. In this study, aquaporin-1 (AQP1)-null mice were used to investigate whether reduced ICP is associated with alterations in mitochondrial structure and the release of optic atrophy type 1 (OPA1) and cytochrome c from mitochondria. Methods: Intraocular pressure (IOP) and ICP were measured in AQP1-null mice, and mitochondrial structural changes were examined using transmission electron microscopy (TEM). Total OPA1 and cytochrome c protein levels were evaluated using immunocytochemistry and Western blotting. Cytosolic and mitochondrial fractions were extracted from retinal tissues, and the subcellular distribution of OPA1 and cytochrome c was further analyzed by Western blotting. Bax and Bcl-2 expression levels were also detected. Results: TEM revealed mitochondrial fission, matrix swelling, and abnormal cristae depletion in the retinas of 1-, 3-, and 6-month-old AQP1-null mice. Morphometric quantification further confirmed significantly reduced mitochondrial length across all age groups and increased mitochondrial width at 1 and 6 months in AQP1-null mice compared with wild-type controls. Decreased retinal OPA1 immunoreactivity and protein expression were observed across all age groups of AQP1-null mice compared with age-matched C57BL/6 control mice. Subcellular fractionation showed increased mitochondrial release of OPA1 (at 3 and 6 months) and cytochrome c (at 1, 3, and 6 months) in the retinas of AQP1-null mice. Altered Bax expression was also detected in the retinas of AQP1-null mice with reduced ICP at all examined ages. Conclusions: Mitochondrial ultrastructural abnormalities, including fission and cristae depletion, altered OPA1 distribution, increased mitochondrial release of OPA1 and cytochrome c, and upregulated Bax expression were observed in the retinas of AQP1-null mice with reduced ICP. These concurrent changes indicate a close association between reduced ICP and retinal mitochondrial dysfunction. Maintaining mitochondrial integrity may therefore serve as a potential protective strategy against optic nerve degeneration in patients with chronic low ICP. Full article
(This article belongs to the Special Issue Molecular and Cellular Research in Neurodegenerative Diseases)
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12 pages, 262 KB  
Article
Sex-Specific Association Between XPC rs2228001 Polymorphism and Parkinson’s Disease Risk in a Mexican Population: A Case–Control Study Exploring Gene–Environment Interactions
by Karla Mariana Alvarado-Retana, Daniel Francisco Ramos-Rosales, Elizabeth Irasema Antuna-Salcido, Sergio Manuel Salas-Pacheco, Francisco Xavier Castellanos-Juárez, Edna Madai Méndez-Hernández, Alma Cristina Salas-Leal, Osmel La Llave-León, Gerardo Quiñones-Canales, Oscar Arias-Carrión, Ada Sandoval-Carrillo and José Manuel Salas-Pacheco
Brain Sci. 2025, 15(9), 1008; https://doi.org/10.3390/brainsci15091008 - 18 Sep 2025
Cited by 1 | Viewed by 1126
Abstract
Background/Objectives: Emerging evidence implicates impaired DNA repair mechanisms in the pathogenesis of Parkinson’s disease (PD), particularly in the context of oxidative stress and environmental exposures. This study investigated the association between five polymorphisms in nucleotide excision repair (NER) pathway genes and PD susceptibility [...] Read more.
Background/Objectives: Emerging evidence implicates impaired DNA repair mechanisms in the pathogenesis of Parkinson’s disease (PD), particularly in the context of oxidative stress and environmental exposures. This study investigated the association between five polymorphisms in nucleotide excision repair (NER) pathway genes and PD susceptibility in a northern Mexican mestizo population. Methods: We conducted a case–control study including 137 patients with clinically diagnosed PD and 137 age- and sex-matched controls. Genomic DNA was isolated from peripheral blood, and genotyping of ERCC1 (rs11615), ERCC2 (rs13181), XPA (rs1800975), XPC (rs2228001), and XPF (rs1799801) was performed using TaqMan real-time PCR assays. Associations between genotype frequencies and PD were evaluated using logistic regression models adjusted for age, sex, and pesticide exposure. Results: A significantly higher prevalence of pesticide exposure was observed in PD patients than in controls (OR 2.08, 95% CI 1.18–3.68; p = 0.01). The XPC rs2228001 C/C genotype was independently associated with increased PD risk in males (OR 3.25, 95% CI 1.07–9.85; p = 0.042), even after adjusting for uric acid, pesticide exposure, and cognitive status (MMSE score). No significant associations were found for other NER-related polymorphisms. Male PD patients also exhibited significantly lower serum uric acid levels than controls (p = 0.046), supporting a link between oxidative stress and disease vulnerability. Conclusions: Our findings suggest a sex-specific genetic contribution to PD susceptibility involving the XPC rs2228001 variant, particularly in the context of pesticide exposure. These results underscore the relevance of DNA repair pathways in PD pathogenesis and highlight the importance of integrated models incorporating genetic and environmental risk factors. Full article
(This article belongs to the Special Issue Molecular and Cellular Research in Neurodegenerative Diseases)
16 pages, 488 KB  
Article
Plasma Neurofilament Light Chain in Patients Affected by Alzheimer’s Disease with Different Rate of Progression: A Retrospective Study on an ADNI Cohort
by Giuseppe Virga, Bruno Di Marco, Valeria Blandino and Tommaso Piccoli
Brain Sci. 2025, 15(9), 924; https://doi.org/10.3390/brainsci15090924 - 27 Aug 2025
Cited by 1 | Viewed by 4348
Abstract
Background: Alzheimer’s disease (AD) shows highly variable progression rates among individuals. Plasma neurofilament light chain (NfL) has emerged as a potential biomarker of neurodegeneration. Objectives: this study aimed to evaluate the predictive value of plasma NfL in estimating the rate of clinical progression [...] Read more.
Background: Alzheimer’s disease (AD) shows highly variable progression rates among individuals. Plasma neurofilament light chain (NfL) has emerged as a potential biomarker of neurodegeneration. Objectives: this study aimed to evaluate the predictive value of plasma NfL in estimating the rate of clinical progression (RoP) in AD. Methods: we retrospectively analyzed 87 AD patients from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database. We stratified patients into two groups based on the median RoP, which was calculated from longitudinal Mini-Mental State Examination (MMSE) score evaluations: slow decliners (SD) and fast decliners (FD). We then compared plasma NfL levels between the two groups and examined their relationship with the progression rate. Results: patients with faster decline rates had higher levels of NfL. Logistic regression (LR) analysis revealed a strong correlation between plasma NfL levels and disease progression rates. Furthermore, a multivariate model incorporating Aβ42 levels improved predictive accuracy. Conclusions: these findings suggest that plasma NfL could serve as a valuable biomarker for monitoring the progression of Alzheimer’s disease, identifying patients at greater risk of rapid decline, and optimizing therapeutic strategies and clinical management. Future studies on larger cohorts will be essential to confirm and further explore these observations. Full article
(This article belongs to the Special Issue Molecular and Cellular Research in Neurodegenerative Diseases)
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Review

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20 pages, 659 KB  
Review
Axonal Transport Deficits in Parkinson’s Disease: Insights from Neurotoxin, Genetic, and Sporadic Models
by Xiaobo Wang, Zhaohui Liu and Wanli W. Smith
Brain Sci. 2026, 16(5), 525; https://doi.org/10.3390/brainsci16050525 - 14 May 2026
Viewed by 204
Abstract
Parkinson’s disease (PD) is a prevalent neurodegenerative disorder, characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta and the accumulation of Lewy bodies. Over recent decades, various cellular mechanisms underlying PD have been elucidated, including autophagy, mitochondrial dysfunction, neuroinflammation, [...] Read more.
Parkinson’s disease (PD) is a prevalent neurodegenerative disorder, characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta and the accumulation of Lewy bodies. Over recent decades, various cellular mechanisms underlying PD have been elucidated, including autophagy, mitochondrial dysfunction, neuroinflammation, and axonal transport. Among them, axonal transport plays a critical role in maintaining the dynamic homeostasis of proteins, membrane-bound organelles, and cellular metabolism within neurons. Unfortunately, a comprehensive overview of axonal transport in PD remains absent. In this review, we synthesized the current literature on axonal transport in PD, leveraging neurotoxic and genetic models to explore the causes and consequences of axonal transport alterations in PD. Through this summary, we aim to deepen our understanding of PD pathogenesis and provide potential therapeutic targets for intervention. Full article
(This article belongs to the Special Issue Molecular and Cellular Research in Neurodegenerative Diseases)
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28 pages, 1018 KB  
Review
Emerging Roles, Mechanisms, and Therapeutic Potential of Thyroid Hormones in Neurodegenerative Diseases: A Review
by Xin’ai Li, Zhe Li, Manna Sun, Yunlong Du, Han Bai, Xiaoheng Chen and Junhui Wang
Brain Sci. 2026, 16(2), 229; https://doi.org/10.3390/brainsci16020229 - 14 Feb 2026
Viewed by 1433
Abstract
Thyroid hormones (THs) are master controllers in the endocrine system and have drawn considerable attention from the research community due to their associations with neurodegenerative diseases as well. In this review article, we present a comprehensive summary of the physiological functions and pathogenic [...] Read more.
Thyroid hormones (THs) are master controllers in the endocrine system and have drawn considerable attention from the research community due to their associations with neurodegenerative diseases as well. In this review article, we present a comprehensive summary of the physiological functions and pathogenic mechanisms of THs in the regulation of several representative neurodegenerative diseases. Our study particularly focuses on Alzheimer’s disease (AD), Parkinson’s disease (PD), and multiple sclerosis (MS). AD is the most common cause of dementia, primarily caused by tau protein tangles inside nerve cells and β-amyloid plaques outside, which lead to nerve cell death and brain atrophy. PD is primarily a movement disorder. The degeneration of dopaminergic neurons in the brain impairs the brain’s control over muscle activity. MS is usually considered to be an autoimmune demyelinating disease, but it has been found that MS also presents with secondary neurodegenerative pathology, including axonal loss and neuronal damage. In this review, the effects of TH on the pathogeneses of AD, PD, and MS are discussed in detail, with a focus on the following potential mechanisms: neuroprotection, neurogenesis, oxidative stress, and inflammatory response. In addition, we conduct an in-depth review of the possible clinical applications of TH, TH analogs, and thyrotropin-releasing hormone (TRH) in the treatment of AD, PD, and MS based on recent preclinical and clinical studies. By integrating experimental, clinical, and epidemiological results on the effects of TH on neurodegeneration, the present review constructs a theoretical basis for the involvement of TH in the pathogeneses of these diseases in detail. We believe that this basis will be useful for clinical diagnosis and treatment. Full article
(This article belongs to the Special Issue Molecular and Cellular Research in Neurodegenerative Diseases)
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