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Current Molecular Science of Fragile X Syndrome and Associated Disorders
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Current Molecular Science of Fragile X Syndrome and Associated Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 30 November 2024 | Viewed by 2976

Special Issue Editors

Prof. Dr. Flora Tassone

E-Mail Website
Guest Editor
1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, UC Davis Health, Sacramento, CA, USA
2. Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA, USA
Interests: neurodevelopmental disorders including fragile X (FMR1) gene and related conditions
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Randi Hagerman

E-Mail Website
Guest Editor
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, Department of Pediatrics, UC Davis Health, Sacramento, CA, USA
Interests: fragile X syndrome (FXS); autism (ASD), and other neurodevelopmental disorders

Special Issue Information

Dear Colleagues,

This special issue titled “Current Molecular Science of Fragile X Syndrome and Associated Disorders” will be edited by Flora Tassone PhD and Randi Hagerman MD, both from the MIND Institute at University of California Davis Medical Center. It will cover advances in our understanding of molecular pathways that underlie fragile X syndrome and premutation disorders. Animal, cellular, and human studies will be highlighted. Phenotype research as it relates to the molecular basis are encouraged. Biomarker studies and gene therapy studies are welcome. Basic research, translational research and the results of clinical trials are welcome. We are interested in original research, reviews and even case reports for this special issue in IJMS.

Prof. Dr. Flora Tassone
Prof. Dr. Randi Hagerman
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

  • FMR1
  • fragile X syndrome
  • FXPOI
  • FXTAS
  • FXAND
  • FXPAC
  • molecular studies

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Published Papers (2 papers)

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Research

13 pages, 534 KiB  
Article
Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome
by Tri Indah Winarni, Ye Hyun Hwang, Susan M. Rivera, David Hessl, Blythe P. Durbin-Johnson, Agustini Utari, Randi Hagerman and Flora Tassone
Int. J. Mol. Sci. 2024, 25(15), 8103; https://doi.org/10.3390/ijms25158103 - 25 Jul 2024
Viewed by 613
Abstract
In this study, the potential role and interaction of the APOε and KLOTHO genes on the penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) and on the IQ trajectory were investigated. FXTAS was diagnosed based on molecular, clinical and radiological criteria. Males with the [...] Read more.
In this study, the potential role and interaction of the APOε and KLOTHO genes on the penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) and on the IQ trajectory were investigated. FXTAS was diagnosed based on molecular, clinical and radiological criteria. Males with the premutation (PM) over 50 years, 165 with and 34 without an FXTAS diagnosis, were included in this study and were compared based on their APO (ε2-ε3-ε4) and KLOTHO variant (KL-VS) genotypes. The effect of APOε4 on FXTAS stage and on diagnosis did not differ significantly by KL-VS genotype with interaction effect p = 0.662 and p = 0.91, respectively. In the FXTAS individuals with an APOε2 allele, a marginal significance was observed towards a larger decline in verbal IQ (VIQ) in individuals with an APOε4 allele compared to those without an APOε4 allele (p = 0.071). In conclusion, our findings suggest that the APOε4 and KL-VS genotypes alone or through their interaction effect do not appear to predispose to either FXTAS diagnosis or stage in male carriers of the PM allele. A further study is needed to establish the trend of IQ decline in the FXTAS individuals who carry APOε4 with APOε2 compared to those without APOε4. Full article
(This article belongs to the Special Issue Current Molecular Science of Fragile X Syndrome and Associated Disorders)
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16 pages, 3018 KiB  
Article
Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System
by Sara Milojevic, Arijit Ghosh, Vedrana Makevic, Maja Stojkovic, Maria Capovilla, Tomislav Tosti, Dejan Budimirovic and Dragana Protic
Int. J. Mol. Sci. 2024, 25(14), 7949; https://doi.org/10.3390/ijms25147949 - 20 Jul 2024
Viewed by 1611
Abstract
Fragile X syndrome (FXS) is caused by the full mutation in the FMR1 gene on the Xq27.3 chromosome region. It is the most common monogenic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID). Besides ASD and ID and other symptoms, [...] Read more.
Fragile X syndrome (FXS) is caused by the full mutation in the FMR1 gene on the Xq27.3 chromosome region. It is the most common monogenic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID). Besides ASD and ID and other symptoms, individuals with FXS may exhibit sleep problems and impairment of circadian rhythm (CR). The Drosophila melanogaster models of FXS, such as dFMR1B55, represent excellent models for research in the FXS field. During this study, sleep patterns and CR in dFMR1B55 mutants were analyzed, using a new platform based on continuous high-resolution videography integrated with a highly-customized version of an open-source software. This methodology provides more sensitive results, which could be crucial for all further research in this model of fruit flies. The study revealed that dFMR1B55 male mutants sleep more and can be considered weak rhythmic flies rather than totally arrhythmic and present a good alternative animal model of genetic disorder, which includes impairment of CR and sleep behavior. The combination of affordable videography and software used in the current study is a significant improvement over previous methods and will enable broader adaptation of such high-resolution behavior monitoring methods. Full article
(This article belongs to the Special Issue Current Molecular Science of Fragile X Syndrome and Associated Disorders)
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