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Neurogenetics of Diseases
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Neurogenetics of Diseases

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: 30 April 2025 | Viewed by 5898

Special Issue Editor

Prof. Dr. Antonio Orlacchio

E-Mail Website
Guest Editor
1. Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy
2. Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, 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 central and peripheral nervous system disorders 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 on this topic and to underline the future need to develop therapies that reduce this unmet medical problem of our society.

Prof. 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.

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Keywords

  • neurogenetic diseases
  • genotypes
  • phenotypes
  • pathogenesis
  • therapeutic tools

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Published Papers (4 papers)

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Research

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28 pages, 9712 KiB  
Article
Molecular Modeling and In Vitro Functional Analysis of the RGS12 PDZ Domain Variant Associated with High-Penetrance Familial Bipolar Disorder
by Percy S. Agogo-Mawuli, Joseph Mendez, Emily A. Oestreich, Dustin E. Bosch and David P. Siderovski
Int. J. Mol. Sci. 2024, 25(21), 11431; https://doi.org/10.3390/ijms252111431 - 24 Oct 2024
Viewed by 1450
Abstract
Bipolar disorder’s etiology involves genetics, environmental factors, and gene–environment interactions, underlying its heterogeneous nature and treatment complexity. In 2020, Forstner and colleagues catalogued 378 sequence variants co-segregating with familial bipolar disorder. A notable candidate was an R59Q missense mutation in the PDZ (PSD-95/Dlg1/ZO-1) [...] Read more.
Bipolar disorder’s etiology involves genetics, environmental factors, and gene–environment interactions, underlying its heterogeneous nature and treatment complexity. In 2020, Forstner and colleagues catalogued 378 sequence variants co-segregating with familial bipolar disorder. A notable candidate was an R59Q missense mutation in the PDZ (PSD-95/Dlg1/ZO-1) domain of RGS12. We previously demonstrated that RGS12 loss removes negative regulation on the kappa opioid receptor, disrupting basal ganglia dopamine homeostasis and dampening responses to dopamine-eliciting psychostimulants. Here, we investigated the R59Q variation in the context of potential PDZ domain functional alterations. We first validated a new target for the wildtype RGS12 PDZ domain—the SAPAP3 C-terminus—by molecular docking, surface plasmon resonance (SPR), and co-immunoprecipitation. While initial molecular dynamics (MD) studies predicted negligible effects of the R59Q variation on ligand binding, SPR showed a significant reduction in binding affinity for the three peptide targets tested. AlphaFold2-generated models predicted a modest reduction in protein–peptide interactions, which is consistent with the reduced binding affinity observed by SPR, suggesting that the substituted glutamine side chain may weaken the affinity of RGS12 for its in vivo binding targets, likely through allosteric changes. This difference may adversely affect the CNS signaling related to dynorphin and dopamine in individuals with this R59Q variation, potentially impacting bipolar disorder pathophysiology. Full article
(This article belongs to the Special Issue Neurogenetics of Diseases)
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20 pages, 2200 KiB  
Article
Synergistic Effect between the APOE ε4 Allele with Genetic Variants of GSK3B and MAPT: Differential Profile between Refractory Epilepsy and Alzheimer Disease
by Danira Toral-Rios, Pavel Pichardo-Rojas, Elizabeth Ruiz-Sánchez, Óscar Rosas-Carrasco, Rosa Carvajal-García, Dey Carol Gálvez-Coutiño, Nancy Lucero Martínez-Rodríguez, Ana Daniela Rubio-Chávez, Myr Alcántara-Flores, Arely López-Ramírez, Alma Rosa Martínez-Rosas, Ángel Alberto Ruiz-Chow, Mario Alonso-Vanegas and Victoria Campos-Peña
Int. J. Mol. Sci. 2024, 25(18), 10228; https://doi.org/10.3390/ijms251810228 - 23 Sep 2024
Cited by 1 | Viewed by 2213
Abstract
Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder characterized by recurrent focal seizures originating in the temporal lobe. Despite the variety of antiseizure drugs currently available to treat TLE, about 30% of cases continue to have seizures. The etiology of TLE is [...] Read more.
Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder characterized by recurrent focal seizures originating in the temporal lobe. Despite the variety of antiseizure drugs currently available to treat TLE, about 30% of cases continue to have seizures. The etiology of TLE is complex and multifactorial. Increasing evidence indicates that Alzheimer’s disease (AD) and drug-resistant TLE present common pathological features that may induce hyperexcitability, especially aberrant hyperphosphorylation of tau protein. Genetic polymorphic variants located in genes of the microtubule-associated protein tau (MAPT) and glycogen synthase kinase-3β (GSK3B) have been associated with the risk of developing AD. The APOE ε4 allele is a major genetic risk factor for AD. Likewise, a gene-dose-dependent effect of ε4 seems to influence TLE. The present study aimed to investigate whether the APOE ɛ4 allele and genetic variants located in the MAPT and GSK3B genes are associated with the risk of developing AD and drug-resistant TLE in a cohort of the Mexican population. A significant association with the APOE ε4 allele was observed in patients with AD and TLE. Additional genetic interactions were identified between this allele and variants of the MAPT and GSK3B genes. Full article
(This article belongs to the Special Issue Neurogenetics of Diseases)
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8 pages, 205 KiB  
Communication
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study
by Daniel Charouf, Derryl Miller, Laith Haddad, Fletcher A. White, Rose-Mary Boustany and Makram Obeid
Int. J. Mol. Sci. 2024, 25(17), 9645; https://doi.org/10.3390/ijms25179645 - 6 Sep 2024
Cited by 3 | Viewed by 1328
Abstract
Advances in genetics led to the identification of hundreds of epilepsy-related genes, some of which are treatable with etiology-specific interventions. However, the diagnostic yield of next-generation sequencing (NGS) in unexplained epilepsy is highly variable (10–50%). We sought to determine the diagnostic yield and [...] Read more.
Advances in genetics led to the identification of hundreds of epilepsy-related genes, some of which are treatable with etiology-specific interventions. However, the diagnostic yield of next-generation sequencing (NGS) in unexplained epilepsy is highly variable (10–50%). We sought to determine the diagnostic yield and clinical utility of NGS in children with unexplained epilepsy that is accompanied by neurodevelopmental delays and/or is medically intractable. A 5-year retrospective review was conducted at the American University of Beirut Medical Center to identify children who underwent whole exome sequencing (WES) or whole genome sequencing (WGS). Data on patient demographics, neurodevelopment, seizures, and treatments were collected. Forty-nine children underwent NGS with an overall diagnostic rate of 68.9% (27/38 for WES, and 4/7 for WGS). Most children (42) had neurodevelopmental delays with (18) or without (24) refractory epilepsy, and only three had refractory epilepsy without delays. The diagnostic yield was 77.8% in consanguineous families (18), and 61.5% in non-consanguineous families (26); consanguinity information was not available for one family. Genetic test results led to anti-seizure medication optimization or dietary therapies in six children, with subsequent improvements in seizure control and neurodevelopmental trajectories. Not only is the diagnostic rate of NGS high in children with unexplained epilepsy and neurodevelopmental delays, but also genetic testing in this population may often lead to potentially life-altering interventions. Full article
(This article belongs to the Special Issue Neurogenetics of Diseases)

Other

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10 pages, 1167 KiB  
Perspective
Biomarkers in Hereditary Spastic Paraplegias
by Emanuele Panza and Antonio Orlacchio
Int. J. Mol. Sci. 2025, 26(5), 1950; https://doi.org/10.3390/ijms26051950 - 24 Feb 2025
Viewed by 375
Abstract
Hereditary spastic paraplegias (HSPs) represent a group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs, with no specific treatment available for patients. At the same time, the molecular diagnosis is complicated by the high genetic heterogeneity of this [...] Read more.
Hereditary spastic paraplegias (HSPs) represent a group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs, with no specific treatment available for patients. At the same time, the molecular diagnosis is complicated by the high genetic heterogeneity of this group of diseases, and it can be challenging due to overlapping clinical features with other conditions. Reliable biomarkers could play a fundamental role in diagnosis, prognosis, and therapeutic interventions for HSPs. For this reason, it is necessary to increase the search for biomarkers that can be used to rapidly classify HSPs, follow the natural history of the conditions, and monitor disease correction therapies. This article provides an overview of the current understanding of biomarkers in HSPs, including genetic, biochemical, and clinical biomarkers and new cell imaging-based approaches. In this manuscript, we aim to provide an overview of the current situation in HSP biomarkers, emphasizing the limitations and the necessity of conducting more studies in this field. Full article
(This article belongs to the Special Issue Neurogenetics of Diseases)
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