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New Insights in Neurogenetics
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New Insights in Neurogenetics

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Neuroscience".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 9139

Special Issue Editor

Dr. James P. Orengo

E-Mail Website
Guest Editor
Department of Neurology, Baylor College of Medicine, Houston, TX, USA
Interests: neuromuscular medicine; neurogenetics

Special Issue Information

Dear Colleagues,

With new advancements in sequencing technologies, human genetics has become more expansive and accessible than ever before. As a result, novel genetic variants associated with disease are being uncovered at record speed. This has had a huge impact on neurology, psychiatry, and neuroscience, and is strengthening our understanding of the mechanisms that mediate neurological disorders.

This Special Issue invites original research articles and reviews that cover all aspects of neurogenetics, from the discovery of novel disease causative gene variants to a model organism investigation on disease mechanisms. Short communications of preliminary, but significant, results will also be considered. This Special Issue also welcomes contributions focused on new biocomputational approaches for mining big datasets, neurophysiological studies delving in disease mechanisms triggered by genetic variants, and manipulations of gene dosage or function as a therapeutic avenue in neurological disease.

Dr. James P. Orengo
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. Biology 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 2700 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
  • neurological disorders
  • neurodevelopmental
  • neurodegenerative
  • neurology
  • psychiatry
  • neuroscience
  • animal models
  • whole-genome sequencing
  • personalized medicine

Published Papers (5 papers)

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Research

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15 pages, 3949 KiB  
Article
Deletion of the Neuronal Transcription Factor Satb1 Induced Disturbance of the Kinome and Mechanisms of Hypoxic Preconditioning
by Egor A. Turovsky, Viktor S. Tarabykin and Elena G. Varlamova
Biology 2023, 12(9), 1207; https://doi.org/10.3390/biology12091207 - 04 Sep 2023
Cited by 1 | Viewed by 1101
Abstract
Genetic disorders affecting the functioning of the brain lead not only to the development of numerous hereditary diseases but also to the development of neurodegenerative and cognitive disorders. The result of this may be the disability of part of the able-bodied population. Almost [...] Read more.
Genetic disorders affecting the functioning of the brain lead not only to the development of numerous hereditary diseases but also to the development of neurodegenerative and cognitive disorders. The result of this may be the disability of part of the able-bodied population. Almost all pathological states of the brain are characterized by serious defects in the intracellular and intercellular signaling of neurons and glial cells. At the same time, the mechanisms of disruption of these signaling cascades are not well understood due to the large number of molecules, including transcription factors that, when mutated, cause brain malformations. The transcription factor Satb1 is one of the least studied factors in the cerebral cortex, and the effects of its deletion in the postnatal brain are practically not studied. Hyperexcitability of neurons is observed in many genetic diseases of the nervous system (Hirschsprung’s disease, Martin–Bell syndrome, Huntington’s disease, Alzheimer’s, etc.), as well as in ischemic brain phenomena and convulsive and epileptic conditions of the brain. In turn, all these disorders of brain physiology are associated with defects in intracellular and intercellular signaling and are often the result of genetic disorders. Using Satb1 mutant mice and calcium neuroimaging, we show that Satb1 deletion in projection neurons of the neocortex causes downregulation of protein kinases PKC, CaMKII, and AKT/PKB, while a partial deletion does not cause a dramatic disruption of kinome and Ca2+ signaling. As a result, Satb1-null neurons are characterized by increased spontaneous Ca2+ activity and hyperexcitability when modeling epileptiform activity. As a result of the deletion of Satb1, preconditioning mechanisms are disrupted in neurons during episodes of hypoxia. This occurs against the background of increased sensitivity of neurons to a decrease in the partial pressure of oxygen, which may indicate the vulnerability of neuronal networks and be accompanied by impaired expression of the Satb1 transcription factor. Here, we show that Satb1 deletion impaired the expression of a number of key kinases and neuronal hyperexcitation in models of epileptiform activity and hypoxia. Full article
(This article belongs to the Special Issue New Insights in Neurogenetics)
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26 pages, 6866 KiB  
Article
Bilirubin-Induced Transcriptomic Imprinting in Neonatal Hyperbilirubinemia
by John Paul Llido, Emanuela Fioriti, Devis Pascut, Mauro Giuffrè, Cristina Bottin, Fabrizio Zanconati, Claudio Tiribelli and Silvia Gazzin
Biology 2023, 12(6), 834; https://doi.org/10.3390/biology12060834 - 08 Jun 2023
Cited by 4 | Viewed by 2380
Abstract
Recent findings indicated aberrant epigenetic control of the central nervous system (CNS) development in hyperbilirubinemic Gunn rats as an additional cause of cerebellar hypoplasia, the landmark of bilirubin neurotoxicity in rodents. Because the symptoms in severely hyperbilirubinemic human neonates suggest other regions as [...] Read more.
Recent findings indicated aberrant epigenetic control of the central nervous system (CNS) development in hyperbilirubinemic Gunn rats as an additional cause of cerebellar hypoplasia, the landmark of bilirubin neurotoxicity in rodents. Because the symptoms in severely hyperbilirubinemic human neonates suggest other regions as privileged targets of bilirubin neurotoxicity, we expanded the study of the potential impact of bilirubin on the control of postnatal brain development to regions correlating with human symptoms. Histology, transcriptomic, gene correlation, and behavioral studies were performed. The histology revealed widespread perturbation 9 days after birth, restoring in adulthood. At the genetic level, regional differences were noticed. Bilirubin affected synaptogenesis, repair, differentiation, energy, extracellular matrix development, etc., with transient alterations in the hippocampus (memory, learning, and cognition) and inferior colliculi (auditory functions) but permanent changes in the parietal cortex. Behavioral tests confirmed the presence of a permanent motor disability. The data correlate well both with the clinic description of neonatal bilirubin-induced neurotoxicity, as well as with the neurologic syndromes reported in adults that suffered neonatal hyperbilirubinemia. The results pave the way for better deciphering the neurotoxic features of bilirubin and evaluating deeply the efficacy of new therapeutic approaches against the acute and long-lasting sequels of bilirubin neurotoxicity. Full article
(This article belongs to the Special Issue New Insights in Neurogenetics)
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Review

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19 pages, 562 KiB  
Review
The Diagnostic Landscape of Adult Neurogenetic Disorders
by Maggie W. Waung, Fion Ma, Allison G. Wheeler, Clement C. Zai and Joyce So
Biology 2023, 12(12), 1459; https://doi.org/10.3390/biology12121459 - 22 Nov 2023
Viewed by 1798
Abstract
Neurogenetic diseases affect individuals across the lifespan, but accurate diagnosis remains elusive for many patients. Adults with neurogenetic disorders often undergo a long diagnostic odyssey, with multiple specialist evaluations and countless investigations without a satisfactory diagnostic outcome. Reasons for these diagnostic challenges include: [...] Read more.
Neurogenetic diseases affect individuals across the lifespan, but accurate diagnosis remains elusive for many patients. Adults with neurogenetic disorders often undergo a long diagnostic odyssey, with multiple specialist evaluations and countless investigations without a satisfactory diagnostic outcome. Reasons for these diagnostic challenges include: (1) clinical features of neurogenetic syndromes are diverse and under-recognized, particularly those of adult-onset, (2) neurogenetic syndromes may manifest with symptoms that span multiple neurological and medical subspecialties, and (3) a positive family history may not be present or readily apparent. Furthermore, there is a large gap in the understanding of how to apply genetic diagnostic tools in adult patients, as most of the published literature focuses on the pediatric population. Despite these challenges, accurate genetic diagnosis is imperative to provide affected individuals and their families guidance on prognosis, recurrence risk, and, for an increasing number of disorders, offer targeted treatment. Here, we provide a framework for recognizing adult neurogenetic syndromes, describe the current diagnostic approach, and highlight studies using next-generation sequencing in different neurological disease cohorts. We also discuss diagnostic pitfalls, barriers to achieving a definitive diagnosis, and emerging technology that may increase the diagnostic yield of testing. Full article
(This article belongs to the Special Issue New Insights in Neurogenetics)
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14 pages, 579 KiB  
Review
Zebrafish Models of Rare Neurological Diseases like Spinocerebellar Ataxias (SCAs): Advantages and Limitations
by Sreeja Sarasamma, Anwarul Karim and James P. Orengo
Biology 2023, 12(10), 1322; https://doi.org/10.3390/biology12101322 - 10 Oct 2023
Viewed by 1588
Abstract
Spinocerebellar ataxia (SCA) is a heterogeneous group of rare familial neurodegenerative disorders that share the key feature of cerebellar ataxia. Clinical heterogeneity, diverse gene mutations and complex neuropathology pose significant challenges for developing effective disease-modifying therapies in SCAs. Without a deep understanding of [...] Read more.
Spinocerebellar ataxia (SCA) is a heterogeneous group of rare familial neurodegenerative disorders that share the key feature of cerebellar ataxia. Clinical heterogeneity, diverse gene mutations and complex neuropathology pose significant challenges for developing effective disease-modifying therapies in SCAs. Without a deep understanding of the molecular mechanisms involved for each SCA, we cannot succeed in developing targeted therapies. Animal models are our best tool to address these issues and several have been generated to study the pathological conditions of SCAs. Among them, zebrafish (Danio rerio) models are emerging as a powerful tool for in vivo study of SCAs, as well as rapid drug screens. In this review, we will summarize recent progress in using zebrafish to study the pathology of SCAs. We will discuss recent advancements on how zebrafish models can further clarify underlying genetic, neuroanatomical, and behavioral pathogenic mechanisms of disease. We highlight their usefulness in rapid drug discovery and large screens. Finally, we will discuss the advantages and limitations of this in vivo model to develop tailored therapeutic strategies for SCA. Full article
(This article belongs to the Special Issue New Insights in Neurogenetics)
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Other

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12 pages, 277 KiB  
Case Report
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
by Laynie Dratch, Tanya M. Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H. Guo, Steven S. Scherer and Defne A. Amado
Biology 2024, 13(2), 93; https://doi.org/10.3390/biology13020093 - 02 Feb 2024
Viewed by 1390
Abstract
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, [...] Read more.
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD-neuropathy, HADHB-related disease, ATXN2-ALS, MECP2 related progressive gait decline and spasticity, and DNMT1-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs. Full article
(This article belongs to the Special Issue New Insights in Neurogenetics)
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