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Special Issue "Genetics of Neurodegenerative Diseases 3.0"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 31 December 2021.

Special Issue Editors

Prof. Dr. Cristoforo Comi
E-Mail Website
Guest Editor
Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale, 28100 Novara, Italy
Interests: neurodegenerative diseases including Parkinson's disease, Huntington disease, other movement disorders, Alzheimer's disease; neuroimmune diseases including: multiple sclerosis, inflammatory neuropathies, myasthenia gravis
Special Issues and Collections in MDPI journals
Dr. Luca Magistrelli
E-Mail Website
Co-Guest Editor
Movement Disorders Centre, Neurology Unit, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy
Interests: movement disorders; neurodegeneration; neurogenetics; neuroimmunology; Parkinson's disease

Special Issue Information

Dear Colleagues,

Genetic susceptibility to neurodegenerative disease has been the object of a large body of research in the last twenty years. Important results both in monogenic heritable diseases and in complex, sporadic disorders have been reached. By contrast, only a few studies have addressed the role of disease modifying genes and/or pharmacogenomic aspects. This might be related to the difficulty in collecting data on disease evolution and response to treatment compared to recording disease development. To fill this gap, large collaborative studies aimed at tracking disease evolution are ongoing and results are likely to provide insightful information on the determinants of progression.

Variations in glucocerebrosidase (GBA), leucine-rich repeat kinase 2 (LRRK2), and alpha-synuclein (SNCA) genes, just to name a few, have already been associated to specific features of Parkinson’s disease (PD) and an effort was recently made to classify PD subtypes in order to better clarify genotype/phenotype correlations. Furthermore, single nucleotide polymorphisms (SNPs) in receptor genes have been associated to development of PD complications. Furthermore, research performed in Alzheimer’s disease (AD) showed that variations in serine racemase (SRR) or in 3-Hydroxy-3-Methylglutaryl-CoA reductase (HMGCR) genes can influence disease progression.

Taken altogether, these findings depict a landscape in which individual genetic profiling will be increasingly relevant in a clinical context, with implications for patient care in line with the proposed ideal of personalized medicine.

 

On this background, the aim of this Special Issue of the International Journal of Molecular Sciences is to attract high-quality studies covering the relationship between gene variations and clinical features of neurodegenerative diseases. Contributors are encouraged to submit articles describing novel results, models, viewpoints, perspectives, and/or methodological innovations. We will strive to ensure that the articles of the Special Issue collectively present a cohesive picture of the state-of-the-art in the field, and help to advance our understanding and management of neurodegenerative diseases.

The topics we wish to cover include, but are not limited to:

  • Genetic determinants of faster neurodegenerative disease evolution;
  • Genetic predisposition to motor and nonmotor complications in PD;
  • The role of genetic background in treatment response in neurodegenerative disease;
  • The genetic background of Parkinson’s disease dementia and Lewy body dementia;
  • Genotype/phenotype correlations in atypical Parkinsonian syndromes.

Prof. Dr. Cristoforo Comi
Dr. Luca Magistrelli
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 papers will be 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.

Published Papers (3 papers)

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Review
Non-Rodent Genetic Animal Models for Studying Tauopathy: Review of Drosophila, Zebrafish, and C. elegans Models
Int. J. Mol. Sci. 2021, 22(16), 8465; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22168465 - 06 Aug 2021
Viewed by 396
Abstract
Tauopathy refers to a group of progressive neurodegenerative diseases, including frontotemporal lobar degeneration and Alzheimer’s disease, which correlate with the malfunction of microtubule-associated protein Tau (MAPT) due to abnormal hyperphosphorylation, leading to the formation of intracellular aggregates in the brain. Despite extensive efforts [...] Read more.
Tauopathy refers to a group of progressive neurodegenerative diseases, including frontotemporal lobar degeneration and Alzheimer’s disease, which correlate with the malfunction of microtubule-associated protein Tau (MAPT) due to abnormal hyperphosphorylation, leading to the formation of intracellular aggregates in the brain. Despite extensive efforts to understand tauopathy and develop an efficient therapy, our knowledge is still far from complete. To find a solution for this group of devastating diseases, several animal models that mimic diverse disease phenotypes of tauopathy have been developed. Rodents are the dominating tauopathy models because of their similarity to humans and established disease lines, as well as experimental approaches. However, powerful genetic animal models using Drosophila, zebrafish, and C. elegans have also been developed for modeling tauopathy and have contributed to understanding the pathophysiology of tauopathy. The success of these models stems from the short lifespans, versatile genetic tools, real-time in-vivo imaging, low maintenance costs, and the capability for high-throughput screening. In this review, we summarize the main findings on mechanisms of tauopathy and discuss the current tauopathy models of these non-rodent genetic animals, highlighting their key advantages and limitations in tauopathy research. Full article
(This article belongs to the Special Issue Genetics of Neurodegenerative Diseases 3.0)
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Review
MicroRNAs, Parkinson’s Disease, and Diabetes Mellitus
Int. J. Mol. Sci. 2021, 22(6), 2953; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22062953 - 14 Mar 2021
Viewed by 884
Abstract
Parkinson’s disease (PD) is a neurodegenerative disorder that affects 1% of the population over the age of 60. Diabetes Mellitus (DM) is a metabolic disorder that affects approximately 25% of adults over the age of 60. Recent studies showed that DM increases the [...] Read more.
Parkinson’s disease (PD) is a neurodegenerative disorder that affects 1% of the population over the age of 60. Diabetes Mellitus (DM) is a metabolic disorder that affects approximately 25% of adults over the age of 60. Recent studies showed that DM increases the risk of developing PD. The link between DM and PD has been discussed in the literature in relation to different mechanisms including mitochondrial dysfunction, oxidative stress, and protein aggregation. In this paper, we review the common microRNA (miRNA) biomarkers of both diseases. miRNAs play an important role in cell differentiation, development, the regulation of the cell cycle, and apoptosis. They are also involved in the pathology of many diseases. miRNAs can mediate the insulin pathway and glucose absorption. miRNAs can also regulate PD-related genes. Therefore, exploring the common miRNA biomarkers of both PD and DM can shed a light on how these two diseases are correlated, and targeting miRNAs is a potential therapeutic opportunity for both diseases. Full article
(This article belongs to the Special Issue Genetics of Neurodegenerative Diseases 3.0)
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Case Report
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype
Int. J. Mol. Sci. 2021, 22(8), 3870; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22083870 - 08 Apr 2021
Viewed by 631
Abstract
Cerebral amyloid angiopathy (CAA) is a cerebrovascular disorder caused by the deposition of amyloid beta-peptide (Aβ) aggregates. Aβ aggregates lead to vessel rupture and intracerebral hemorrhages, detected by magnetic resonance imaging (MRI). Presenile CAA is usually genetically determined by mutations in the amyloid [...] Read more.
Cerebral amyloid angiopathy (CAA) is a cerebrovascular disorder caused by the deposition of amyloid beta-peptide (Aβ) aggregates. Aβ aggregates lead to vessel rupture and intracerebral hemorrhages, detected by magnetic resonance imaging (MRI). Presenile CAA is usually genetically determined by mutations in the amyloid precursor protein (APP) gene. However, mutations after codon 200 in the presenilin 1 (PSEN1) gene have been reported to facilitate CAA onset. Here, we analyzed the genetic bases in a patient of 55 years old affected by CAA and cognitive decline. DNA was isolated and genetic analysis was performed by Next-Generation Sequencing (NGS). RNA was extracted and retro-transcribed to perform segregation analysis by TOPO-TA cloning. WB analysis was carried out to check the impact of the mutations on protein. Two compound heterozygous mutations in PSEN1 exon 10, such as a novel stop-gain mutation (c.1070C > G) and a pathogenic splice variant (c.1129A > T), were found by NGS. Both mutations altered the presenilin 1 protein, truncating its C-terminal portion. This is the first case of CAA and cognitive decline caused by two compound mutations in PSEN1. With this report, we suggest extending the genetic analysis to PSEN1 when cerebral microbleeds are observed by MRI investigation in a patient affected by presenile cognitive decline. Full article
(This article belongs to the Special Issue Genetics of Neurodegenerative Diseases 3.0)
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