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Genes
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Genetics and Treatment in Neurodegenerative Diseases
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Genetics and Treatment in Neurodegenerative Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: 15 September 2025 | Viewed by 1253

Special Issue Editors

Dr. Valentino Rački

E-Mail Website
Guest Editor
Department of Neurology, Clinical Hospital Centre Rijeka, Rijeka, Croatia
Interests: Parkinson’s disease; neurodegeneration; neurogenetike; microglia; neuroimmunology
Dr. Gaber Bergant

E-Mail Website
Guest Editor
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia
Interests: tandem repeat expansion disorders; hereditary ataxia; Huntington’s disease; whole genome sequencing; next-generation sequencing; RNA sequencing; Parkinson’s disease; neurodegenerative disorders

Special Issue Information

Dear Colleagues,

The Special Issue "Genetics and Treatment in Neurodegenerative Diseases" invites original research articles and comprehensive reviews exploring genetic determinants and therapeutic strategies in neurodegeneration. Manuscripts that focus on genetic factors contributing to diseases such as Alzheimer's, Parkinson's, amyotrophic lateral sclerosis (ALS), and Huntington's disease are welcome, with an emphasis on insights that inform therapeutic innovation and personalized medicine. Submissions may include genetic association studies, pharmacogenomics, gene-editing therapies, biomarker identification, and translational research connecting genetics to clinical interventions, as well as novel genetic therapies. This issue aims to foster understanding of disease mechanisms, promote early diagnosis, and accelerate the development of targeted treatments, ultimately improving patient outcomes in neurodegenerative conditions.

Dr. Valentino Rački
Dr. Gaber Bergant
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. Genes 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

  • neurodegeneration
  • genetics
  • Alzheimer’s disease
  • Parkinson’s disease
  • gene therapy
  • pharmacogenomics
  • precision medicine

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

15 pages, 2731 KiB  
Article
Brain and CSF Alzheimer’s Biomarkers Are Associated with SERPINE1 Gene Expression
by Cynthia Picard, Henrik Zetterberg, Kaj Blennow, Sylvia Villeneuve, Judes Poirier and on behalf of the PREVENT-AD Research Group
Genes 2025, 16(7), 818; https://doi.org/10.3390/genes16070818 - 12 Jul 2025
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Abstract
Background: SERPINE1, also known as plasminogen activator inhibitor (PAI), has been proposed as a potential blood biomarker for the early detection and diagnosis of Alzheimer’s disease (AD). Expanding on previous studies, this research contrasted SERPINE1 levels in CSF and brain tissue of AD [...] Read more.
Background: SERPINE1, also known as plasminogen activator inhibitor (PAI), has been proposed as a potential blood biomarker for the early detection and diagnosis of Alzheimer’s disease (AD). Expanding on previous studies, this research contrasted SERPINE1 levels in CSF and brain tissue of AD patients and those at risk for AD with established AD biomarkers. Methods: Utilizing OLINK and immunoassay methods, CSF SERPINE1 protein levels were quantified across two separate cohorts: PREVENT-AD and ADNI. Microarray and RNAseq were used to measure tissue SERPINE1 mRNA levels in two separate cohorts: the Douglas-Bell Canada Brain Bank and the Mayo Clinic Brain Bank. Results: At the pre-clinical stage, elevated CSF levels of pTau, tTau and synaptic markers, alongside reduced hippocampal volume, correlate with CSF SERPINE1 levels. Elevated cortical SERPINE1 mRNA levels in autopsy-confirmed AD show weak correlation with regional plaques and tangles densities, but strong correlation with Braak staging. Conclusions: CSF SERPINE1 levels can be used as an early biomarker for the detection of pathological changes associated with AD. Higher SERPINE1 levels correlate more strongly with tau pathology than with amyloid formation or deposition. Full article
(This article belongs to the Special Issue Genetics and Treatment in Neurodegenerative Diseases)
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17 pages, 35398 KiB  
Article
Hwanhon Decoction Ameliorates Cognitive Impairment and Suppresses Neuroinflammation in a Chronic Cerebral Hypoperfusion Mouse Model: Involvement of Key Genes Identified by Network Pharmacology
by Sieun Kang, Chiyeon Lim, Sehyun Lim, Kyoung-Min Kim and Suin Cho
Genes 2025, 16(7), 746; https://doi.org/10.3390/genes16070746 - 26 Jun 2025
Viewed by 576
Abstract
Background: With an aging population, dementia prevalence is increasing in Korea. Vascular dementia (VaD), often caused by cerebrovascular disease (CVD), is more common in Korea compared to Western countries. Hwanhon decoction, a traditional medicine containing Ephedrae Herba, Armeniacae Semen, and Glycyrrhizae Radix et [...] Read more.
Background: With an aging population, dementia prevalence is increasing in Korea. Vascular dementia (VaD), often caused by cerebrovascular disease (CVD), is more common in Korea compared to Western countries. Hwanhon decoction, a traditional medicine containing Ephedrae Herba, Armeniacae Semen, and Glycyrrhizae Radix et Rhizoma, is traditionally used for CVD-related loss of consciousness. This study aimed to assess the cognitive improvement and anti-inflammatory effects of Hwanhon decoction extract (HHex) in a mouse model of VaD caused by chronic cerebral hypoperfusion (CCH). Methods: Key pharmacologically active ingredients of Hwanhon decoction were identified using network pharmacology analysis. VaD was induced in C57Bl/6 male mice through bilateral common carotid artery stenosis (BCAS). Mice were divided into sham surgery, BCAS control, low-dose HHex (L-HHex), and high-dose HHex (H-HHex) groups (n = 5/group). After CCH induction, L-HHex or H-HHex was administered thrice weekly for six weeks. Cognitive function, inflammatory markers, and RNA sequencing data were analyzed. Results: HHex administration reduced cognitive impairment and mitigated CCH-induced astrocyte activation. Inflammatory responses mediated by reactive astrocytes were suppressed, and network pharmacology predicted central proteins influencing HHex’s activity. Conclusions: HHex alleviated cognitive dysfunction and reduced inflammation in a VaD mouse model, suggesting its potential as a therapeutic agent for vascular dementia associated with impaired cerebral blood flow. Full article
(This article belongs to the Special Issue Genetics and Treatment in Neurodegenerative Diseases)
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