Clinical Genetics and Genomics of Neurodegenerative Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: 31 July 2026 | Viewed by 933

Editors


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Guest Editor
1. Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY 40536 USA
2. Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY 40536, USA
3. Division of Biomedical Informatics, Department of Internal Medicine, University of Kentucky, Lexington, KY 40536, USA
4. Department of Microbiology, Immunology, and Molecular Genetics, University of Kentucky, Lexington, KY 40536 USA
Interests: genetics; Alzheimer’s disease; neuroscience
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
1. Department of Psychiatry, Washington University in Saint Louis School of Medicine, 4444 Forest Park, Campus Box 8134, Saint Louis, MO 63110, USA
2. NeuroGenomics and Informatics Center, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110, USA
3. Department of Neurology, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110, USA
Interests: neurodegeneration; biomarkers; Alzheimer’s disease; Parkinson’s disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The prevalence of neurodegenerative disorders is rapidly increasing, and it is expected to continue to grow as the global population ages. Neurodegenerative disorders encompass various conditions, including Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, ALS, motor neuron disease, prion disease, dementia-type diseases (FTD, CTE, LBD, LATE, etc.), and many others that progressively affect memory, movement, thinking, and behavior. Recent advances in large-scale genomic studies have revealed some of the underlying molecular causes of these disorders, but more work is needed to translate these findings to the clinic. Moreover, the genes, proteins, protein modifications, etc., driving these associations and their implications for disease progression and potential therapeutic interventions remain largely unknown.

This Special Issue, entitled “Clinical Genetics and Genomics of Neurodegenerative Diseases”, is intended to provide a platform for a wide range of reviews, research articles, communications, and technical notes related to the genomics of neurodegenerative disorders. We encourage manuscripts to have a strong genomic component that may include, but is not limited to, machine learning of high-throughput data associated with Alzheimer’s disease and other dementias, genome-wide association studies, proteomic studies, functional studies for Alzheimer’s disease-related genes or variants or other neurodegenerative diseases, personalized genetics, gene expression analyses, clinical trials with a genetic component, rare variant analyses, and other bioinformatics analyses of Alzheimer’s disease using DNA or RNA sequencing data. We are especially interested in how genetics can influence therapeutic responses and better inform clinical practice, whether through earlier diagnoses and screening or patient-centered treatment plans. Please contact the Guest Editors with questions related to the scope of this Special Issue.

Dr. Justin Miller
Dr. Laura Ibanez
Guest Editors

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Keywords

  • dementia
  • neurodegeneration
  • Alzheimer’s disease
  • Parkinson’s disease
  • Huntington’s disease
  • ALS
  • genetics
  • genomics
  • translational medicine
  • frontotemporal dementia
  • LATE
  • prion disease
  • neurocognitive impairment
  • GWAS
  • polygenic risk

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Published Papers (1 paper)

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Research

10 pages, 1357 KB  
Article
The T Allele of the HNMT C314T Polymorphism Is Associated with a Reduced Risk of Idiopathic Parkinson’s Disease in Mexican Patients
by Antonio Bueno-Nava, Diana-Karina Díaz-Hernández, Rogelio Paniagua-Pérez, Paul Carrillo-Mora, José-Antonio Martínez-Cortez, Claudia Hernández-Arenas, Saúl-Renán León-Hernández, Adriana Olmos-Hernández, Antonio Verduzco-Mendoza, Alberto Avila-Luna and Arturo Gálvez-Rosas
Biomedicines 2026, 14(4), 861; https://doi.org/10.3390/biomedicines14040861 - 9 Apr 2026
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Abstract
Introduction: The histaminergic pathway has been implicated in Parkinson’s disease (PD). Histamine is metabolized by histamine N-methyltransferase (HNMT), and the gene encoding this enzyme has a C314T polymorphism, in which cytosine is replaced by thymine. This results in reduced enzymatic activity. Objective: To [...] Read more.
Introduction: The histaminergic pathway has been implicated in Parkinson’s disease (PD). Histamine is metabolized by histamine N-methyltransferase (HNMT), and the gene encoding this enzyme has a C314T polymorphism, in which cytosine is replaced by thymine. This results in reduced enzymatic activity. Objective: To analyze the C314T polymorphism of the HNMT gene in Mexican patients with idiopathic PD. Materials and Methods: In this study, peripheral blood samples were collected from patients with PD and healthy controls for genomic DNA extraction. HNMT genotyping was performed using the restriction fragment length polymorphism (RFLP) technique. Quantitative variables were compared using Student’s t test, and categorical variables were compared using Pearson’s χ2 test. The risk of PD was estimated using odds ratios (ORs) and 95% confidence intervals (CIs). Results: According to the results of the bivariate analysis, compared with the controls, the patients were significantly older (p = 0.001) and had a higher incidence of hypertension (p = 0.020). HNMT RFLP analysis suggested an association between the C allele and PD development, with an OR (95% CI) of 7.424 (0.866–63.646). In contrast, the T allele appeared to confer a protective effect, with an OR of 0.134. In the age-adjusted Mantel—Haenszel stratified analysis of the HNMT C314T polymorphism, the C allele was identified as a risk factor for PD development in this small cohort, with an OR (95% CI) of 12.0 (0.8–160.4; p = 0.041). Conclusions: Advanced age, hypertension, and the C allele of the HNMT gene were associated with an increased risk of PD, whereas the T allele appeared to be associated with a protective role. Full article
(This article belongs to the Special Issue Clinical Genetics and Genomics of Neurodegenerative Diseases)
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