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Neurogenetics in Neurology

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

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 18821

Special Issue Editor

Dr. Antonio Orlacchio

E-Mail Website
Guest Editor
1. Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy
2. Laboratory of Neurogenetics, European Center for Brain Research (CERC), Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Santa Lucia Foundation, 00143 Rome, Italy
Interests: human genetics; neurology; neurogenetics; neurodegenerative diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurogenetic diseases are disorders of the central and peripheral nervous systems caused by molecular defects in heritable material, usually DNA. An increased focus on neurogenetics in neurology is timely and critical. There is a relevant reason to hope for treatments and therapies in the coming years that will restore significant function to people affected by neurogenetic diseases. Thus, this Research Topic will include manuscripts that describe genotypes and phenotypes of the different forms of genetic diseases affecting the central and peripheral nervous systems, increase our understanding of their pathogenesis, and articulate strategies to use this knowledge to deliver novel therapeutic tools. The overall aim is to offer a broad perspective of our current knowledge in this topic, and to underline the future needs to develop therapies that reduce this unmet medical problem of our society.

Dr. Antonio Orlacchio
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 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. 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.

Keywords

  • neurogenetics
  • neurology
  • central nervous system
  • peripheral nervous system
  • human genetics
  • medical genetics
  • genotype–phenotype correlation
  • pathogenesis
  • therapy

Published Papers (7 papers)

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Editorial

Jump to: Research, Review, Other

3 pages, 168 KiB  
Editorial
Special Issue “Neurogenetics in Neurology”
by Antonio Orlacchio
Int. J. Mol. Sci. 2024, 25(2), 1061; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms25021061 - 15 Jan 2024
Viewed by 1348
Abstract
With the rapid developments in molecular genetics and genomics, this Special Issue collates works outlining ultra-modern scientific research [...] Full article
(This article belongs to the Special Issue Neurogenetics in Neurology)

Research

Jump to: Editorial, Review, Other

16 pages, 7247 KiB  
Article
Transcriptomic Analysis of Human Fragile X Syndrome Neurons Reveals Neurite Outgrowth Modulation by the TGFβ/BMP Pathway
by Liron Kuznitsov-Yanovsky, Guy Shapira, Lital Gildin, Noam Shomron and Dalit Ben-Yosef
Int. J. Mol. Sci. 2022, 23(16), 9278; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23169278 - 17 Aug 2022
Cited by 2 | Viewed by 1849
Abstract
Fragile X Syndrome (FXS) is the main genetic reason for intellectual disability and is caused by the silencing of fragile X mental retardation protein (FMRP), an RNA-binding protein regulating the translation of many neuronal mRNAs. Neural differentiation of FX human embryonic stem cells [...] Read more.
Fragile X Syndrome (FXS) is the main genetic reason for intellectual disability and is caused by the silencing of fragile X mental retardation protein (FMRP), an RNA-binding protein regulating the translation of many neuronal mRNAs. Neural differentiation of FX human embryonic stem cells (hESC) mimics the neurodevelopment of FXS fetuses and thus serves as a good model to explore the mechanisms underlining the development of FXS. Isogenic hESC clones with and without the FX mutation that share the same genetic background were in vitro differentiated into neurons, and their transcriptome was analyzed by RNA sequencing. FX neurons inactivating FMR1 expression presented delayed neuronal development and maturation, concomitant with dysregulation of the TGFβ/BMP signaling pathway, and genes related to the extracellular matrix. Migration assay showed decreased neurite outgrowth in FX neurons that was rescued by inhibition of the TGFβ/BMP signaling pathway. Our results provide new insights into the molecular pathway by which loss of FMRP affects neuronal network development. In FX neurons, the lack of FMRP dysregulates members of the BMP signaling pathway associated with ECM organization which, in a yet unknown mechanism, reduces the guidance of axonal growth cones, probably leading to the aberrant neuronal network function seen in FXS. Full article
(This article belongs to the Special Issue Neurogenetics in Neurology)
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Review

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18 pages, 1855 KiB  
Review
Brain Calcifications: Genetic, Molecular, and Clinical Aspects
by Edoardo Monfrini, Federica Arienti, Paola Rinchetti, Francesco Lotti and Giulietta M. Riboldi
Int. J. Mol. Sci. 2023, 24(10), 8995; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24108995 - 19 May 2023
Cited by 3 | Viewed by 3124
Abstract
Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium–phosphate metabolism derangement, autoimmune disorders and infections, among others). [...] Read more.
Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium–phosphate metabolism derangement, autoimmune disorders and infections, among others). A set of causative genes associated with primary familial brain calcification (PFBC) has now been identified, and include genes such as SLC20A2, PDGFB, PDGFRB, XPR1, MYORG, and JAM2. However, many more genes are known to be linked with complex syndromes characterized by brain calcifications and additional neurologic and systemic manifestations. Of note, many of these genes encode for proteins involved in cerebrovascular and blood–brain barrier functions, which both represent key anatomical structures related to these pathological phenomena. As a growing number of genes associated with brain calcifications is identified, pathways involved in these conditions are beginning to be understood. Our comprehensive review of the genetic, molecular, and clinical aspects of brain calcifications offers a framework for clinicians and researchers in the field. Full article
(This article belongs to the Special Issue Neurogenetics in Neurology)
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35 pages, 1739 KiB  
Review
The “Superoncogene” Myc at the Crossroad between Metabolism and Gene Expression in Glioblastoma Multiforme
by Chiara Cencioni, Fiorella Scagnoli, Francesco Spallotta, Sergio Nasi and Barbara Illi
Int. J. Mol. Sci. 2023, 24(4), 4217; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24044217 - 20 Feb 2023
Cited by 3 | Viewed by 3133
Abstract
The concept of the Myc (c-myc, n-myc, l-myc) oncogene as a canonical, DNA-bound transcription factor has consistently changed over the past few years. Indeed, Myc controls gene expression programs at multiple levels: directly binding chromatin and recruiting transcriptional coregulators; modulating the activity of [...] Read more.
The concept of the Myc (c-myc, n-myc, l-myc) oncogene as a canonical, DNA-bound transcription factor has consistently changed over the past few years. Indeed, Myc controls gene expression programs at multiple levels: directly binding chromatin and recruiting transcriptional coregulators; modulating the activity of RNA polymerases (RNAPs); and drawing chromatin topology. Therefore, it is evident that Myc deregulation in cancer is a dramatic event. Glioblastoma multiforme (GBM) is the most lethal, still incurable, brain cancer in adults, and it is characterized in most cases by Myc deregulation. Metabolic rewiring typically occurs in cancer cells, and GBM undergoes profound metabolic changes to supply increased energy demand. In nontransformed cells, Myc tightly controls metabolic pathways to maintain cellular homeostasis. Consistently, in Myc-overexpressing cancer cells, including GBM cells, these highly controlled metabolic routes are affected by enhanced Myc activity and show substantial alterations. On the other hand, deregulated cancer metabolism impacts Myc expression and function, placing Myc at the intersection between metabolic pathway activation and gene expression. In this review paper, we summarize the available information on GBM metabolism with a specific focus on the control of the Myc oncogene that, in turn, rules the activation of metabolic signals, ensuring GBM growth. Full article
(This article belongs to the Special Issue Neurogenetics in Neurology)
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19 pages, 1788 KiB  
Review
The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration
by Irene Faravelli, Giulietta M. Riboldi, Paola Rinchetti and Francesco Lotti
Int. J. Mol. Sci. 2023, 24(3), 2247; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24032247 - 23 Jan 2023
Cited by 3 | Viewed by 4073
Abstract
In the cell, RNA exists and functions in a complex with RNA binding proteins (RBPs) that regulate each step of the RNA life cycle from transcription to degradation. Central to this regulation is the role of several molecular chaperones that ensure the correct [...] Read more.
In the cell, RNA exists and functions in a complex with RNA binding proteins (RBPs) that regulate each step of the RNA life cycle from transcription to degradation. Central to this regulation is the role of several molecular chaperones that ensure the correct interactions between RNA and proteins, while aiding the biogenesis of large RNA-protein complexes (ribonucleoproteins or RNPs). Accurate formation of RNPs is fundamentally important to cellular development and function, and its impairment often leads to disease. The survival motor neuron (SMN) protein exemplifies this biological paradigm. SMN is part of a multi-protein complex essential for the biogenesis of various RNPs that function in RNA metabolism. Mutations leading to SMN deficiency cause the neurodegenerative disease spinal muscular atrophy (SMA). A fundamental question in SMA biology is how selective motor system dysfunction results from reduced levels of the ubiquitously expressed SMN protein. Recent clarification of the central role of the SMN complex in RNA metabolism and a thorough characterization of animal models of SMA have significantly advanced our knowledge of the molecular basis of the disease. Here we review the expanding role of SMN in the regulation of gene expression through its multiple functions in RNP biogenesis. We discuss developments in our understanding of SMN activity as a molecular chaperone of RNPs and how disruption of SMN-dependent RNA pathways can contribute to the SMA phenotype. Full article
(This article belongs to the Special Issue Neurogenetics in Neurology)
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14 pages, 3858 KiB  
Review
Emerging Role of MicroRNA-30c in Neurological Disorders
by Manish Kumar and Guohong Li
Int. J. Mol. Sci. 2023, 24(1), 37; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24010037 - 20 Dec 2022
Cited by 5 | Viewed by 2353
Abstract
MicroRNAs (miRNAs or miRs) are a class of small non-coding RNAs that negatively regulate the expression of target genes by interacting with 3′ untranslated regions of target mRNAs to induce mRNA degradation and translational repression. The miR-30 family members are involved in the [...] Read more.
MicroRNAs (miRNAs or miRs) are a class of small non-coding RNAs that negatively regulate the expression of target genes by interacting with 3′ untranslated regions of target mRNAs to induce mRNA degradation and translational repression. The miR-30 family members are involved in the development of many tissues and organs and participate in the pathogenesis of human diseases. As a key member of the miR-30 family, miR-30c has been implicated in neurological disorders such as Alzheimer’s disease, Parkinson’s disease, multiple sclerosis, and stroke. Mechanistically, miR-30c may act as a multi-functional regulator of different pathogenic processes such as autophagy, apoptosis, endoplasmic reticulum stress, inflammation, oxidative stress, thrombosis, and neurovascular function, thereby contributing to different disease states. Here, we review and discuss the biogenesis, gene regulation, and the role and mechanisms of action of miR-30c in several neurological disorders and therapeutic potential in clinics. Full article
(This article belongs to the Special Issue Neurogenetics in Neurology)
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Other

13 pages, 4098 KiB  
Perspective
Hooked Up from a Distance: Charting Genome-Wide Long-Range Interaction Maps in Neural Cells Chromatin to Identify Novel Candidate Genes for Neurodevelopmental Disorders
by Sara Mercurio, Giorgia Pozzolini, Roberta Baldi, Sara E. Barilà, Mattia Pitasi, Orazio Catona, Romina D’Aurizio and Silvia K. Nicolis
Int. J. Mol. Sci. 2023, 24(2), 1164; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24021164 - 6 Jan 2023
Cited by 2 | Viewed by 2149
Abstract
DNA sequence variants (single nucleotide polymorphisms or variants, SNPs/SNVs; copy number variants, CNVs) associated to neurodevelopmental disorders (NDD) and traits often map on putative transcriptional regulatory elements, including, in particular, enhancers. However, the genes controlled by these enhancers remain poorly defined. Traditionally, the [...] Read more.
DNA sequence variants (single nucleotide polymorphisms or variants, SNPs/SNVs; copy number variants, CNVs) associated to neurodevelopmental disorders (NDD) and traits often map on putative transcriptional regulatory elements, including, in particular, enhancers. However, the genes controlled by these enhancers remain poorly defined. Traditionally, the activity of a given enhancer, and the effect of its possible alteration associated to the sequence variants, has been thought to influence the nearest gene promoter. However, the obtainment of genome-wide long-range interaction maps in neural cells chromatin challenged this view, showing that a given enhancer is very frequently not connected to the nearest promoter, but to a more distant one, skipping genes in between. In this Perspective, we review some recent papers, who generated long-range interaction maps (by HiC, RNApolII ChIA-PET, Capture-HiC, or PLACseq), and overlapped the identified long-range interacting DNA segments with DNA sequence variants associated to NDD (such as schizophrenia, bipolar disorder and autism) and traits (intelligence). This strategy allowed to attribute the function of enhancers, hosting the NDD-related sequence variants, to a connected gene promoter lying far away on the linear chromosome map. Some of these enhancer-connected genes had indeed been already identified as contributive to the diseases, by the identification of mutations within the gene’s protein-coding regions (exons), validating the approach. Significantly, however, the connected genes also include many genes that were not previously found mutated in their exons, pointing to novel candidate contributors to NDD and traits. Thus, long-range interaction maps, in combination with DNA variants detected in association with NDD, can be used as “pointers” to identify novel candidate disease-relevant genes. Functional manipulation of the long-range interaction network involving enhancers and promoters by CRISPR-Cas9-based approaches is beginning to probe for the functional significance of the identified interactions, and the enhancers and the genes involved, improving our understanding of neural development and its pathology. Full article
(This article belongs to the Special Issue Neurogenetics in Neurology)
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