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Molecular Factors of Intellectual Disability Syndromes
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Molecular Factors of Intellectual Disability Syndromes

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 12565

Special Issue Editors

Dr. Vera Kalscheuer

E-Mail Website
Guest Editor
Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
Interests: intellectual disability syndrome; neurodevelopmental disorders (NDD); brain development
Prof. Dr. Susann Schweiger

E-Mail Website
Guest Editor
Institute for Human Genetics, University Medical Center Mainz, 55131 Mainz, Germany
Interests: intellectual disability; neurodevelopmental disorders; neurodegenerative disorders; mTOR; fragile X; Huntington’s Disease

Special Issue Information

Dear Colleagues,

Intellectual disability (ID) is caused by mutations in several different genes. It is a substantial burden for affected patients and their families. Syndromic forms of ID are characterized by the combination of ID with other phenotypic abnormalities, such as epilepsy, dysmorphic features, skeletal aberrations, etc.

In recent decades, mutations in a large number of genes have been identified, leading to autosomal-dominant, autosomal-recessive and X-linked ID syndromes. Together with ground-breaking biochemical work, this has revealed a network of genes involved in ID. Modern technology, including genome editing and cell reprogramming, shed further light on the physiological function of the genes involved, as well as on the patho-mechanisms underlying syndromic ID. The question of the mechanisms behind the clinical variability of ID syndromes adds a further dimension to the problem. Deep understanding of the patho-mechanistic connections is fundamental for an improvement of diagnostics and prognosis of ID syndromes as well as the development of causative therapies.

In this Special Issue, we are looking for articles on the molecular factors of ID, their interconnection and their patho-mechanistic contribution. We particularly welcome work that has the potential to either improve diagnosis and prognosis or pave the way for experimental therapies.

Dr. Vera Kalscheuer
Prof. Dr. Susann Schweiger
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

  • Intellectual disability (ID)
  • pathomechanism
  • experimental therapy
  • gene-gene interaction
  • clinical variability
  • sexual dimorphism
  • gene mutations
  • phenotypic abnormalities
  • ID syndromes
  • monogenic disorders

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Published Papers (3 papers)

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Review

12 pages, 1125 KiB  
Review
Human Brain Models of Intellectual Disability: Experimental Advances and Novelties
by Nona Laura Lisa Merckx and Hilde Van Esch
Int. J. Mol. Sci. 2022, 23(12), 6476; https://doi.org/10.3390/ijms23126476 - 9 Jun 2022
Cited by 1 | Viewed by 4123
Abstract
Intellectual disability (ID) is characterized by deficits in conceptual, social and practical domains. ID can be caused by both genetic defects and environmental factors and is extremely heterogeneous, which complicates the diagnosis as well as the deciphering of the underlying pathways. Multiple scientific [...] Read more.
Intellectual disability (ID) is characterized by deficits in conceptual, social and practical domains. ID can be caused by both genetic defects and environmental factors and is extremely heterogeneous, which complicates the diagnosis as well as the deciphering of the underlying pathways. Multiple scientific breakthroughs during the past decades have enabled the development of novel ID models. The advent of induced pluripotent stem cells (iPSCs) enables the study of patient-derived human neurons in 2D or in 3D organoids during development. Gene-editing tools, such as CRISPR/Cas9, provide isogenic controls and opportunities to design personalized gene therapies. In practice this has contributed significantly to the understanding of ID and opened doors to identify novel therapeutic targets. Despite these advances, a number of areas of improvement remain for which novel technologies might entail a solution in the near future. The purpose of this review is to provide an overview of the existing literature on scientific breakthroughs that have been advancing the way ID can be studied in the human brain. The here described human brain models for ID have the potential to accelerate the identification of underlying pathophysiological mechanisms and the development of therapies. Full article
(This article belongs to the Special Issue Molecular Factors of Intellectual Disability Syndromes)
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14 pages, 1210 KiB  
Review
PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity
by Hikari Tanaka and Hitoshi Okazawa
Int. J. Mol. Sci. 2022, 23(11), 6227; https://doi.org/10.3390/ijms23116227 - 2 Jun 2022
Cited by 11 | Viewed by 4374
Abstract
The idea that a common pathology underlies various neurodegenerative diseases and dementias has attracted considerable attention in the basic and medical sciences. Polyglutamine binding protein-1 (PQBP1) was identified in 1998 after a molecule was predicted to bind to polyglutamine tract amino acid sequences, [...] Read more.
The idea that a common pathology underlies various neurodegenerative diseases and dementias has attracted considerable attention in the basic and medical sciences. Polyglutamine binding protein-1 (PQBP1) was identified in 1998 after a molecule was predicted to bind to polyglutamine tract amino acid sequences, which are associated with a family of neurodegenerative disorders called polyglutamine diseases. Hereditary gene mutations of PQBP1 cause intellectual disability, whereas acquired loss of function of PQBP1 contributes to dementia pathology. PQBP1 functions in innate immune cells as an intracellular receptor that recognizes pathogens and neurodegenerative proteins. It is an intrinsically disordered protein that generates intracellular foci, similar to other neurodegenerative disease proteins such as TDP43, FUS, and hnRNPs. The knowledge accumulated over more than 20 years has given rise to a new concept that shifts in the equilibrium between physiological and pathological processes have their basis in the dysregulation of common protein structure-linked molecular mechanisms. Full article
(This article belongs to the Special Issue Molecular Factors of Intellectual Disability Syndromes)
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14 pages, 1690 KiB  
Review
Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention
by Rebekah de Nys, Raman Kumar and Jozef Gecz
Int. J. Mol. Sci. 2021, 22(18), 9769; https://doi.org/10.3390/ijms22189769 - 9 Sep 2021
Cited by 5 | Viewed by 3286
Abstract
Steroids yield great influence on neurological development through nuclear hormone receptor (NHR)-mediated gene regulation. We recently reported that cell adhesion molecule protocadherin 19 (encoded by the PCDH19 gene) is involved in the coregulation of steroid receptor activity on gene expression. PCDH19 variants cause [...] Read more.
Steroids yield great influence on neurological development through nuclear hormone receptor (NHR)-mediated gene regulation. We recently reported that cell adhesion molecule protocadherin 19 (encoded by the PCDH19 gene) is involved in the coregulation of steroid receptor activity on gene expression. PCDH19 variants cause early-onset developmental epileptic encephalopathy clustering epilepsy (CE), with altered steroidogenesis and NHR-related gene expression being identified in these individuals. The implication of hormonal pathways in CE pathogenesis has led to the investigation of various steroid-based antiepileptic drugs in the treatment of this disorder, with mixed results so far. Therefore, there are many unmet challenges in assessing the antiseizure targets and efficiency of steroid-based therapeutics for CE. We review and assess the evidence for and against the implication of neurosteroids in the pathogenesis of CE and in view of their possible clinical benefit. Full article
(This article belongs to the Special Issue Molecular Factors of Intellectual Disability Syndromes)
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