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Genetic Variants in Neurological and Psychiatric Diseases
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Genetic Variants in Neurological and Psychiatric 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 September 2024 | Viewed by 3632

Special Issue Editors

Prof. Dr. Maria A. Mariggiò

E-Mail Website
Guest Editor
Department of Precision and Regenerative Medicine and Ionian Area, University of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy
Interests: diagnostics; molecular oncology and pathology; precision medicine
Special Issues, Collections and Topics in MDPI journals
Dr. Maria A. Bonifacio

E-Mail Website
Guest Editor
Department of Precision and Regenerative Medicine and Ionian Area, University of Bari Aldo Moro Medical School, 70124 Bari, Italy
Interests: tissue engineering; regenerative medicine; spectroscopy; biological characterization; composite materials; hydrogels; coatings; phytochemicals
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Genetic susceptibility to multifactorial neurological and psychiatric diseases is one of the hottest topics in molecular biology and translational medicine. Indeed, improvements in diagnostics, as well as the findings of multicenter studies, are changing the perspectives of researchers. The overlapping symptoms of common disorders are now being explained as genetic risk factors, shared by patients with several psychiatric conditions (i.e., anxiety, depression, epilepsy).

In addition, genetic variants and single-nucleotide polymorphisms have been associated with immune-mediated diseases, leading to neuroinflammatory disorders, as well as to neurological dysfunctions. Meanwhile, through genome-wide studies, the scientific community is revealing the genetic architecture underlying high-impact neurodegenerative diseases, such as Alzheimer and Parkinson diseases, making individual genetic profiling a concrete opportunity to prevent or delay disease onset. Furthermore, the opportunity to identify variants associated with enzymes responsible for drug metabolism (i.e., cytochromes, monoamine oxidases, catechol-o-methyltransferases) is opening new landscapes in personalized therapy. All these outcomes allow the provision of the most effective treatment for each patient in terms of therapeutic molecule selection and dose adjustment.

This Special Issue welcomes every paper (i.e., original research article, systematic review, case report, short communication, and meta-analysis) representing a significant contribution in this research field.

Prof. Dr. Maria A. Mariggiò
Dr. Maria A. Bonifacio
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. 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

  • genetic variants
  • polymorphisms
  • genetic profile
  • neurological diseases
  • psychiatric disorders
  • therapeutic drug monitoring (TDM)

Published Papers (3 papers)

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13 pages, 4135 KiB  
Article
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders
by Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi and Hormos Salimi Dafsari
Int. J. Mol. Sci. 2024, 25(4), 2053; https://doi.org/10.3390/ijms25042053 - 08 Feb 2024
Viewed by 1148
Abstract
Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects. Here, we report [...] Read more.
Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects. Here, we report five novel patients from unrelated families with PUF60-related disorders exhibiting novel genetic and clinical findings with three truncating variants, one splice-site variant with likely reduced protein expression, and one missense variant. Protein modeling of the patient’s missense variant in the PUF60 AlphaFold structure revealed a loss of polar bonds to the surrounding residues. Neurodevelopmental disorders were present in all patients, with variability in speech, motor, cognitive, social-emotional and behavioral features. Novel phenotypic expansions included movement disorders as well as immunological findings with recurrent respiratory, urinary and ear infections, atopic diseases, and skin abnormalities. We discuss the role of PUF60 in immunity with and without infection based on recent organismic and cellular studies. As our five patients showed less-severe phenotypes than classical Verheij syndrome, particularly with the absence of key features such as coloboma or palatal abnormalities, we propose a reclassification as PUF60-related neurodevelopmental disorders with multi-system involvement. These findings will aid in the genetic counseling of patients and families. Full article
(This article belongs to the Special Issue Genetic Variants in Neurological and Psychiatric Diseases)
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16 pages, 783 KiB  
Article
Genetic and Epigenetic Regulation in Lingo-1: Effects on Cognitive Function and White Matter Microstructure in a Case-Control Study for Schizophrenia
by Jessica L. Andrews, Andrew Zalesky, Shalima Nair, Ryan P. Sullivan, Melissa J. Green, Christos Pantelis, Kelly A. Newell and Francesca Fernandez
Int. J. Mol. Sci. 2023, 24(21), 15624; https://doi.org/10.3390/ijms242115624 - 26 Oct 2023
Cited by 1 | Viewed by 986
Abstract
Leucine-rich repeat and immunoglobulin domain-containing protein (Lingo-1) plays a vital role in a large number of neuronal processes underlying learning and memory, which are known to be disrupted in schizophrenia. However, Lingo-1 has never been examined in the context of schizophrenia. The genetic [...] Read more.
Leucine-rich repeat and immunoglobulin domain-containing protein (Lingo-1) plays a vital role in a large number of neuronal processes underlying learning and memory, which are known to be disrupted in schizophrenia. However, Lingo-1 has never been examined in the context of schizophrenia. The genetic association of a single-nucleotide polymorphism (SNP, rs3144) and methylation (CpG sites) in the Lingo-1 3′-UTR region was examined, with the testing of cognitive dysfunction and white matter (WM) integrity in a schizophrenia case-control cohort (n = 268/group). A large subset of subjects (97 control and 161 schizophrenia subjects) underwent structural magnetic resonance imaging (MRI) brain scans to assess WM integrity. Frequency of the rs3144 minor allele was overrepresented in the schizophrenia population (p = 0.03), with an odds ratio of 1.39 (95% CI 1.016–1.901). CpG sites surrounding rs3144 were hypermethylated in the control population (p = 0.032) compared to the schizophrenia group. rs3144 genotype was predictive of membership to a subclass of schizophrenia subjects with generalized cognitive deficits (p < 0.05), in addition to having associations with WM integrity (p = 0.018). This is the first study reporting a potential implication of genetic and epigenetic risk factors in Lingo-1 in schizophrenia. Both of these genetic and epigenetic alterations may also have associations with cognitive dysfunction and WM integrity in the context of the schizophrenia pathophysiology. Full article
(This article belongs to the Special Issue Genetic Variants in Neurological and Psychiatric Diseases)
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8 pages, 770 KiB  
Case Report
Hereditary Spastic Paraplegia Type 11—Clinical, Genetic and Neuroimaging Characteristics
by Justyna Chojdak-Łukasiewicz, Katarzyna Sulima, Anna Zimny, Marta Waliszewska-Prosół and Sławomir Budrewicz
Int. J. Mol. Sci. 2023, 24(24), 17530; https://doi.org/10.3390/ijms242417530 - 15 Dec 2023
Viewed by 1006
Abstract
Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetically determined diseases, characterised by progressive spastic paraparesis of the lower limbs, associated with degeneration of the corticospinal tract and the posterior column of the spinal cord. HSP occurs worldwide and the estimated prevalence [...] Read more.
Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetically determined diseases, characterised by progressive spastic paraparesis of the lower limbs, associated with degeneration of the corticospinal tract and the posterior column of the spinal cord. HSP occurs worldwide and the estimated prevalence is about 1–10/100,000, depending on the geographic localisation. More than 70 genes responsible for HSP have been identified to date, and reports of new potentially pathogenic variants appear regularly. All possible patterns of inheritance (autosomal dominant, autosomal recessive, X-linked and mitochondrial) have been described in families of HSP patients. Among the autosomal recessive forms of HSP (AR-HSP), hereditary spastic paraplegia type 11 is the most common one. We present a patient with diagnosed HSP 11, with a typical clinical picture and characteristic features in additional diagnostic tests. Full article
(This article belongs to the Special Issue Genetic Variants in Neurological and Psychiatric Diseases)
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