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Fragile X Syndrome: From Molecular Mechanisms to Therapeutic Approaches
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Fragile X Syndrome: From Molecular Mechanisms to Therapeutic Approaches

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 (15 November 2022) | Viewed by 8173

Special Issue Editors

Prof. Dr. Menahem Segal

E-Mail Website
Guest Editor
Department of Neurobiology, The Weizmann Institute, Herzl St 234, Rehovot 7610001, Israel
Interests: electrophysiology; cultured neurons; memory; neuromodulation
Special Issues, Collections and Topics in MDPI journals
Dr. Telias Michael

E-Mail Website
Guest Editor
Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA
Interests: electrophysiology; fragile X syndrome; autism; human embryonic stem cells

Special Issue Information

Dear Colleagues,

This Special Issue will cover all aspects of the molecular and cellular mechanisms leading to neuropathology in fragile X syndrome. Since the discovery of the FMR1 gene more than 30 years ago and the establishment of different research models from knockout mice to induced pluripotent stem cells derived from patients, the understanding of FXS has advanced remarkably. Insights into the molecular and cellular abnormalities in FX neurons and their synaptic connections have led to the identification of key players that can be targeted by drugs and other therapeutics, some of them even resulting in experimental clinical trials seeking to ameliorate or even correct functional deficits in FXS patients.

However, critical questions about the role of FMRP in neural tissue remain unanswered: what are the most important targets of FMRP that react to its disappearance and are responsible to downstream detrimental effects? What aspects of neuronal plasticity are most affected by lack of FMRP and how are they manifested during embryonic development and adult life? What type of neuronal and synaptic deficits caused by absence of FMRP are reversible and what strategies could be used to promote reversibility?

We invite authors to submit details of their research focused on these and other open questions as original research articles or literature reviews.

Prof. Dr. Menahem Segal
Dr. Telias Michael
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

  • FMRP
  • neural plasticity
  • HESCs
  • fragile X
  • neural development

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Published Papers (2 papers)

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20 pages, 4701 KiB  
Article
Impaired Functional Connectivity Underlies Fragile X Syndrome
by Lital Gildin, Rossana Rauti, Ofir Vardi, Liron Kuznitsov-Yanovsky, Ben M. Maoz, Menahem Segal and Dalit Ben-Yosef
Int. J. Mol. Sci. 2022, 23(4), 2048; https://doi.org/10.3390/ijms23042048 - 12 Feb 2022
Cited by 6 | Viewed by 3489
Abstract
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is caused by a developmentally regulated silencing of the FMR1 gene, but its effect on human neuronal network development and function is not fully understood. Here, we isolated isogenic human embryonic [...] Read more.
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is caused by a developmentally regulated silencing of the FMR1 gene, but its effect on human neuronal network development and function is not fully understood. Here, we isolated isogenic human embryonic stem cell (hESC) subclones—one with a full FX mutation and one that is free of the mutation (control) but shares the same genetic background—differentiated them into induced neurons (iNs) by forced expression of NEUROG-1, and compared the functional properties of the derived neuronal networks. High-throughput image analysis demonstrates that FX-iNs have significantly smaller cell bodies and reduced arborizations than the control. Both FX- and control-neurons can discharge repetitive action potentials, and FX neuronal networks are also able to generate spontaneous excitatory synaptic currents with slight differences from the control, demonstrating that iNs generate more mature neuronal networks than the previously used protocols. MEA analysis demonstrated that FX networks are hyperexcitable with significantly higher spontaneous burst-firing activity compared to the control. Most importantly, cross-correlation analysis enabled quantification of network connectivity to demonstrate that the FX neuronal networks are significantly less synchronous than the control, which can explain the origin of the development of intellectual dysfunction associated with FXS. Full article
(This article belongs to the Special Issue Fragile X Syndrome: From Molecular Mechanisms to Therapeutic Approaches)
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Review

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24 pages, 1810 KiB  
Review
Mechanisms Driving the Emergence of Neuronal Hyperexcitability in Fragile X Syndrome
by Pernille Bülow, Menahem Segal and Gary J. Bassell
Int. J. Mol. Sci. 2022, 23(11), 6315; https://doi.org/10.3390/ijms23116315 - 5 Jun 2022
Cited by 7 | Viewed by 4147
Abstract
Hyperexcitability is a shared neurophysiological phenotype across various genetic neurodevelopmental disorders, including Fragile X syndrome (FXS). Several patient symptoms are associated with hyperexcitability, but a puzzling feature is that their onset is often delayed until their second and third year of life. It [...] Read more.
Hyperexcitability is a shared neurophysiological phenotype across various genetic neurodevelopmental disorders, including Fragile X syndrome (FXS). Several patient symptoms are associated with hyperexcitability, but a puzzling feature is that their onset is often delayed until their second and third year of life. It remains unclear how and why hyperexcitability emerges in neurodevelopmental disorders. FXS is caused by the loss of FMRP, an RNA-binding protein which has many critical roles including protein synthesis-dependent and independent regulation of ion channels and receptors, as well as global regulation of protein synthesis. Here, we discussed recent literature uncovering novel mechanisms that may drive the progressive onset of hyperexcitability in the FXS brain. We discussed in detail how recent publications have highlighted defects in homeostatic plasticity, providing new insight on the FXS brain and suggest pharmacotherapeutic strategies in FXS and other neurodevelopmental disorders. Full article
(This article belongs to the Special Issue Fragile X Syndrome: From Molecular Mechanisms to Therapeutic Approaches)
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