scholarly journals Neuroinflammation links COVID-19 and fragile X syndrome: Role of MMP-9, IGF-1, IL-10, metformin, statins and curcumin

Qeios ◽  
2021 ◽  
Author(s):  
Marcos Altable
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X

scholarly journals Role of microRNA Pathway in Mental Retardation

2007 ◽  
Vol 7 ◽  
pp. 146-154 ◽  
Author(s):  
Abrar Qurashi ◽  
Shuang Chang ◽  
Peng Jin
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Genetic Basis ◽  
Fragile X ◽  
Biological Pathways ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
Mirna Pathway ◽  
Microrna Pathway

Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP).MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides in length, which have been implicated in diversified biological pathways. Recent studies have linked the miRNA pathway to fragile X syndrome. Here we review the role of the miRNA pathway in fragile X syndrome and discuss its implication in MR in general.

scholarly journals Bullying Victimization in Young Females with Fragile-X-Syndrome

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1069
Author(s):  
Lorena Joga-Elvira ◽  
Carlos Jacas ◽  
María-Luisa Joga ◽  
Ana Roche-Martínez ◽  
Carme Brun-Gasca
Keyword(s):  
Social Support ◽  
Social Interaction ◽  
Fragile X Syndrome ◽  
Emotional State ◽  
Fragile X ◽  
Bullying Victimization ◽  
Control Group ◽  
Social Signals ◽  
Young Females

The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological assessment was carried out on a sample of 40 participants (26 FXS positive and 14 control group) using the following instruments: WISC-V, SENA, BAS-2, ABAS-II. The results show that the group of girls with FXS presented higher ratios of lack of social support and isolation from classmates. This finding suggests that problems with social interaction and communication in the group of girls with FXS could lead to difficulties in interpreting social signals and identifying situations of bullying correctly, placing them in a very vulnerable situation.

FMRP Modulates Activity-Dependent Spine Plasticity by Binding Cofilin1 mRNA and Regulating Localization and Local Translation

2019 ◽  
Vol 29 (12) ◽  
pp. 5204-5216 ◽  
Author(s):  
Jonas Feuge ◽  
Franziska Scharkowski ◽  
Kristin Michaelsen-Preusse ◽  
Martin Korte
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Treatment Strategies ◽  
Actin Dynamics ◽  
Actin Remodeling ◽  
Dendritic Spine Morphology ◽  
Novel Treatment Strategies ◽  
Activity Dependent ◽  
Spine Plasticity

Abstract Multiple variants of intellectual disability, e.g., the Fragile X Syndrome are associated with alterations in dendritic spine morphology, thereby pointing to dysregulated actin dynamics during development and processes of synaptic plasticity. Surprisingly, although the necessity of spine actin remodeling was demonstrated repeatedly, the importance and precise role of actin regulators is often undervalued. Here, we provide evidence that structural and functional plasticity are severely impaired after NMDAR-dependent LTP in the hippocampus of Fmr1 KO mice. We can link these defects to an aberrant activity-dependent regulation of Cofilin 1 (cof1) as activity-dependent modulations of local cof1 mRNA availability, local cof1 translation as well as total cof1 expression are impaired in the absence of FMRP. Finally, we can rescue activity-dependent structural plasticity in KO neurons by mimicking the regulation of cof1 observed in WT cells, thereby illustrating the potential of actin modulators to provide novel treatment strategies for the Fragile X Syndrome.

scholarly journals The Role of Executive Function in Independent Living Skills in Female Adolescents and Young Adults With Fragile X Syndrome

2016 ◽  
Vol 121 (5) ◽  
pp. 448-460 ◽  
Author(s):  
Arianna Martin ◽  
Eve-Marie Quintin ◽  
Scott S. Hall ◽  
Allan L. Reiss
Keyword(s):  
Executive Function ◽  
Fragile X Syndrome ◽  
Independent Living ◽  
Fragile X ◽  
Early Adulthood ◽  
Age Group ◽  
Independent Living Skills ◽  
Comparison Groups ◽  
Living Skills

Abstract Fragile X syndrome (FXS) is associated with executive function (EF) and independent living skills (ILS) deficits. We examined the role of childhood EF in ILS during adolescence/early adulthood in females with FXS and two comparison groups in the same age range (matched for IQ [IQ/Age group] and with another genetic condition, Turner syndrome [TS group]). EF and ILS were significantly higher for the FXS group than the IQ/Age group but did not differ from the TS group. For the FXS group, age and EF were significant predictors of ILS during adolescence/early adulthood, but there were no statistically significant longitudinal associations between EF and ILS. Our findings suggest that impairments in EF may have a significant effect on ILS in FXS.

scholarly journals Role of Maternal Gesture Use in Speech Use by Children With Fragile X Syndrome

2014 ◽  
Vol 23 (2) ◽  
pp. 146-159 ◽  
Author(s):  
Laura J. Hahn ◽  
B. Jean Zimmer ◽  
Nancy C. Brady ◽  
Rebecca E. Swinburne Romine ◽  
Kandace K. Fleming
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X
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