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Genes
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Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases
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Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 15 May 2024 | Viewed by 3256

Special Issue Editors

Dr. Emiliano Giardina

E-Mail Website
Guest Editor
1. Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy
2. Forensic Genetics Laboratoty, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy
Interests: forensic genetics; genetic counselling; human identification; neurogenetics; prenatal and postnatal genetic diagnosis
Special Issues, Collections and Topics in MDPI journals
Dr. Stefania Zampatti

E-Mail Website
Guest Editor
Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, 00142 Rome, Italy
Interests: genetic counseling; neurogenetics; pharmacogenetics; rare disorders; genetic diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Technological advances in molecular genetics have allowed the development of new diagnostic protocols. In recent decades, the time needed for the diagnosis of neurodegenerative and neuromuscular diseases has been significantly reduced with the introduction in clinical practice of high-resolution neuroimaging and next-generation sequencing. To date, the availability of new technologies for molecular, clinical, and instrumental characterization of disorders makes it possible to perform phenotype stratification for research and diagnostic purposes. The discovery of new molecular causes of these disorders is crucial to improve diagnosis and genotype–phenotype correlation as well as provide indications for therapeutical interventions. In the present scenario, patients affected by neurodegenerative and neuromuscular disease can now benefit from new-generation technologies that should significantly reduce the diagnostic odyssey. Furthermore, the phenotype stratification of diseases supports the development of new treatments and therapies.

In this Special Issue, we welcome reviews and original articles covering many aspects of neurodegenerative and neuromuscular disorders. These include but are not limited to new diagnostic, therapeutic, and neuroimaging protocols, functional and molecular evaluation of genetic disorders, translation of research data into medical protocols, new therapeutical perspectives, epigenetic signatures of disease, and multiomic analysis of disease trajectory. This Special Issue of Genes will highlight recent advances in the field and new applications of omic data in the diagnosis and treatment of neurodegenerative and neuromuscular diseases.

Prof. Dr. Emiliano Giardina
Dr. Stefania Zampatti
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

  • neurogenetics
  • neurodegenerative disease
  • neuromuscular disease
  • genomics
  • molecular genetics

Published Papers (2 papers)

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18 pages, 1208 KiB  
Article
Application of OpenArray Technology to Assess Changes in the Expression of Functionally Significant Genes in the Substantia Nigra of Mice in a Model of Parkinson’s Disease
by Dmitry Troshev, Anna Kolacheva, Ekaterina Pavlova, Victor Blokhin and Michael Ugrumov
Genes 2023, 14(12), 2202; https://doi.org/10.3390/genes14122202 - 12 Dec 2023
Viewed by 1375
Abstract
Studying the molecular mechanisms of the pathogenesis of Parkinson’s disease (PD) is critical to improve PD treatment. We used OpenArray technology to assess gene expression in the substantia nigra (SN) cells of mice in a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) model of PD and in controls. [...] Read more.
Studying the molecular mechanisms of the pathogenesis of Parkinson’s disease (PD) is critical to improve PD treatment. We used OpenArray technology to assess gene expression in the substantia nigra (SN) cells of mice in a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) model of PD and in controls. Among the 11 housekeeping genes tested, Rps27a was taken as the reference gene due to its most stable expression in normal and experimental conditions. From 101 genes encoding functionally significant proteins of nigrostriatal dopaminergic neurons, 57 highly expressed genes were selected to assess their expressions in the PD model and in the controls. The expressions of Th, Ddc, Maoa, Comt, Slc6a3, Slc18a2, Drd2, and Nr4a2 decreased in the experiment compared to the control, indicating decreases in the synthesis, degradation, and transport of dopamine and the impaired autoregulation of dopaminergic neurons. The expressions of Tubb3, Map2, Syn1, Syt1, Rab7, Sod1, Cib1, Gpx1, Psmd4, Ubb, Usp47, and Ctsb genes were also decreased in the MPTP-treated mice, indicating impairments of axonal and vesicular transport and abnormal functioning of the antioxidant and ubiquitin-proteasome systems in the SN. The detected decreases in the expressions of Snca, Nsf, Dnm1l, and Keap1 may serve to reduce pathological protein aggregation, increase dopamine release in the striatum, prevent mitophagy, and restore the redox status of SN cells. Full article
(This article belongs to the Special Issue Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases)
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Review

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18 pages, 653 KiB  
Review
The Landscape of Monogenic Parkinson’s Disease in Populations of Non-European Ancestry: A Narrative Review
by Christos Koros, Anastasia Bougea, Athina Maria Simitsi, Nikolaos Papagiannakis, Efthalia Angelopoulou, Ioanna Pachi, Roubina Antonelou, Maria Bozi, Maria Stamelou and Leonidas Stefanis
Genes 2023, 14(11), 2097; https://doi.org/10.3390/genes14112097 - 17 Nov 2023
Cited by 1 | Viewed by 1414
Abstract
Introduction: There has been a bias in the existing literature on Parkinson’s disease (PD) genetics as most studies involved patients of European ancestry, mostly in Europe and North America. Our target was to review published research data on the genetic profile of PD [...] Read more.
Introduction: There has been a bias in the existing literature on Parkinson’s disease (PD) genetics as most studies involved patients of European ancestry, mostly in Europe and North America. Our target was to review published research data on the genetic profile of PD patients of non-European or mixed ancestry. Methods: We reviewed articles published during the 2000–2023 period, focusing on the genetic status of PD patients of non-European origin (Indian, East and Central Asian, Latin American, sub-Saharan African and Pacific islands). Results: There were substantial differences regarding monogenic PD forms between patients of European and non-European ancestry. The G2019S Leucine Rich Repeat Kinase 2 (LRRK2) mutation was rather scarce in non-European populations. In contrast, East Asian patients carried different mutations like p.I2020T, which is common in Japan. Parkin (PRKN) variants had a global distribution, being common in early-onset PD in Indians, in East Asians, and in early-onset Mexicans. Furthermore, they were occasionally present in Black African PD patients. PTEN-induced kinase 1 (PINK1) and PD protein 7 (DJ-1) variants were described in Indian, East Asian and Pacific Islands populations. Glucocerebrosidase gene variants (GBA1), which represent an important predisposing factor for PD, were found in East and Southeast Asian and Indian populations. Different GBA1 variants have been reported in Black African populations and Latin Americans. Conclusions: Existing data reveal a pronounced heterogeneity in the genetic background of PD. A number of common variants in populations of European ancestry appeared to be absent or scarce in patients of diverse ethnic backgrounds. Large-scale studies that include genetic screening in African, Asian or Latin American populations are underway. The outcomes of such efforts will facilitate further clinical studies and will possibly contribute to the identification of either new pathogenic mutations in already described genes or novel PD-related genes. Full article
(This article belongs to the Special Issue Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases)
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