Prolonged and specific spatial training during adolescence reverses adult hippocampal network impairments in a mouse model of fragile X syndrome
Neurobiol Dis. 2023 Jul 27:106240. doi: 10.1016/j.nbd.2023.106240. Online ahead of print.ABSTRACTThe Fragile X Syndrome (FXS) is the leading monogenetic cause of cognitive impairment and autism. A hallmark of FXS patients and the FXS mouse model (Fmr1 KO) is an overabundance of immature appearing dendritic spines in the cortex and hippocampus which is associated with behavioral deficits. Spine analysis in the different hippocampal subregions and at different developmental stages revealed that in adult mice, hippocampal spine pathology occurs specifically in the CA3 subregion, which plays a pivotal role in pattern completio...
Source: Neurobiology of Disease - July 29, 2023 Category: Neurology Authors: Caroline Zeitouny Martin Korte Kristin Michaelsen-Preusse Source Type: research
Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome
ConclusionsThese data indicate cortical region-specific delays in temporal processing development inFmr1 KO mice. Developmental delays in the ability of frontal cortex to follow rapid changes in sounds may shape language delays in FXS, and more broadly in ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 29, 2023 Category: Neurology Source Type: research
Genes, Vol. 14, Pages 1518: Large-Scale Whole Genome Sequence Analysis of & gt;22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder
Genes, Vol. 14, Pages 1518: Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder
Genes doi: 10.3390/genes14081518
Authors:
Alex Chubick
Evan Wang
Cora Au
Wayne W. Grody
Roel A. Ophoff
Expansion of a CGG repeat in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome is the cause of Fragile X Syndrome (FXS). The repeat length of unaffected individuals varies between 5–40 repeats, whereas >200 repeats are observed in cases of FXS. The intermediate range betwee...
Source: Genes - July 25, 2023 Category: Genetics & Stem Cells Authors: Alex Chubick Evan Wang Cora Au Wayne W. Grody Roel A. Ophoff Tags: Article Source Type: research
GSE228378 Human pluripotent stem cell-derived astrocyte model in fragile X syndrome
Contributors : Ulla-Kaisa Peteri ; Juho Pitkonen ; Pia Laine ; Mahmoud A Pouladi ; Maija L CastrenSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensThe experiment was made to compare gene expression of human control (H1) ES-derived astrocytes and isogenic astrocytes carrying a mutation causing fragile x syndrome. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - July 21, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
A longitudinal investigation of pragmatic language across contexts in autism and related neurodevelopmental conditions
ConclusionOverlap and differences between ASD and other forms of neurodevelopmental disability in general, and between idiopathic and syndromic ASD in particular, have important implications for developing precisely tailored assessment and intervention approaches, consistent with a personalized medicine approach to clinical study and care in ASD. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - July 21, 2023 Category: Neurology Source Type: research
The potential role of ribonucleic acid methylation in the pathological mechanisms of fragile X syndrome
Behav Brain Res. 2023 Jul 17:114586. doi: 10.1016/j.bbr.2023.114586. Online ahead of print.ABSTRACTFragile X syndrome (FXS) is a common inherited cause of intellectual disabilities and single-gene cause of autism spectrum disorder (ASD), resulting from the loss of functional fragile X messenger ribonucleoprotein (FMRP), an RNA-binding protein (RBP) encoded by the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Ribonucleic acid (RNA) methylation can lead to developmental diseases, including FXS, through various mechanisms mediated by 5-hydroxymethylcytosine, 5-methylcytosine, N6-methyladenosine, etc. Emerging evidence ...
Source: Behavioural Brain Research - July 19, 2023 Category: Neurology Authors: Yu-Shan Chen Jing Dong Wei Tan Hui Liu Si-Ming Zhang Jia Zou Yi-Qi Chen Shu-Yan Bai Yan Zeng Source Type: research
The potential role of ribonucleic acid methylation in the pathological mechanisms of fragile X syndrome
Behav Brain Res. 2023 Jul 17:114586. doi: 10.1016/j.bbr.2023.114586. Online ahead of print.ABSTRACTFragile X syndrome (FXS) is a common inherited cause of intellectual disabilities and single-gene cause of autism spectrum disorder (ASD), resulting from the loss of functional fragile X messenger ribonucleoprotein (FMRP), an RNA-binding protein (RBP) encoded by the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Ribonucleic acid (RNA) methylation can lead to developmental diseases, including FXS, through various mechanisms mediated by 5-hydroxymethylcytosine, 5-methylcytosine, N6-methyladenosine, etc. Emerging evidence ...
Source: Brain Research - July 19, 2023 Category: Neurology Authors: Yu-Shan Chen Jing Dong Wei Tan Hui Liu Si-Ming Zhang Jia Zou Yi-Qi Chen Shu-Yan Bai Yan Zeng Source Type: research
Blunted type-5 metabotropic glutamate receptor-mediated polyphosphoinositide hydrolysis in two mouse models of monogenic autism
Neuropharmacology. 2023 Jun 29:109642. doi: 10.1016/j.neuropharm.2023.109642. Online ahead of print.ABSTRACTThe involvement of the mGlu5 receptors in the pathophysiology of several forms of monogenic autism has been supported by numerous studies following the seminal observation that mGlu5 receptor-dependent long-term depression was enhanced in the hippocampus of mice modeling the fragile-X syndrome (FXS). Surprisingly, there are no studies examining the canonical signal transduction pathway activated by mGlu5 receptors (i.e. polyphosphoinositide - PI - hydrolysis) in mouse models of autism. We have developed a method for ...
Source: Neuropharmacology - July 1, 2023 Category: Drugs & Pharmacology Authors: Luisa Di Menna Rosamaria Orlando Giovanna D'Errico Roxana Paula Ginerete Agata Machaczka Carmela M Bonaccorso Andrea Arena Michela Spatuzza Roberta Celli Marika Alborghetti Eleonora Ciocca Anna Rita Zuena Maria Rosaria Scioli Valeria Bruno Giuseppe Battag Source Type: research
Blunted type-5 metabotropic glutamate receptor-mediated polyphosphoinositide hydrolysis in two mouse models of monogenic autism
Neuropharmacology. 2023 Jun 29:109642. doi: 10.1016/j.neuropharm.2023.109642. Online ahead of print.ABSTRACTThe involvement of the mGlu5 receptors in the pathophysiology of several forms of monogenic autism has been supported by numerous studies following the seminal observation that mGlu5 receptor-dependent long-term depression was enhanced in the hippocampus of mice modeling the fragile-X syndrome (FXS). Surprisingly, there are no studies examining the canonical signal transduction pathway activated by mGlu5 receptors (i.e. polyphosphoinositide - PI - hydrolysis) in mouse models of autism. We have developed a method for ...
Source: Neuropharmacology - July 1, 2023 Category: Drugs & Pharmacology Authors: Luisa Di Menna Rosamaria Orlando Giovanna D'Errico Roxana Paula Ginerete Agata Machaczka Carmela M Bonaccorso Andrea Arena Michela Spatuzza Roberta Celli Marika Alborghetti Eleonora Ciocca Anna Rita Zuena Maria Rosaria Scioli Valeria Bruno Giuseppe Battag Source Type: research
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations
Molecular analysis of FMR1 allele for Patient A. Key Clinical MessageA high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood. Although initial genetic findings helped make a correct fragile X syndrome (FXS) determination, the report was insufficient. Ten years later, we repeated and conducted additional genetic and clinical studies to determine whether more information could assist with treatment and counseling. The genetic findings were very consistent with his high functioning and would have enabled us to be more ...
Source: Clinical Case Reports - June 24, 2023 Category: General Medicine Authors: Meg Shieh,
Keren Amkraut,
Gail A. Spiridigliozzi,
Tatyana Adayev,
Kaylea Nicholson,
Allyn McConkie ‐Rosell,
Marie McDonald,
Malinda Pennington,
Siby Sebastian,
Ave M. Lachiewicz Tags: CASE REPORT Source Type: research
GSE202179 Antisense Oligonucleotide Rescue of CGG Expansion-Dependent FMR1 Mis-Splicing in Fragile X Syndrome Restores FMRP
Series Type : Expression profiling by high throughput sequencing ; Genome binding/occupancy profiling by high throughput sequencingOrganism :This SuperSeries is composed of the SubSeries listed below. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - June 14, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Source Type: research
GSE202178 Antisense Oligonucleotide Rescue of CGG Expansion-Dependent FMR1 Mis-Splicing in Fragile X Syndrome Restores FMRP
Contributors : Sneha Shah ; Kevin J Sharp ; Jonathan Watts ; Elizabeth Berry-Kravis ; Joel D RichterSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism :Aberrant alternative splicing of mRNAs results in dysregulated gene expression in multiple neurological disorders. Here we show that hundreds of mRNAs are incorrectly expressed and spliced in white blood cells and brain tissue of individuals with fragile X syndrome (FXS). Surprisingly, the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene is transcribed in>70% of the FXS tissues. In all FMR1 expressing FXS tissues, FMR1 RNA itself is...
Source: GEO: Gene Expression Omnibus - June 14, 2023 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Source Type: research
GSE202177 Antisense Oligonucleotide Rescue of CGG Expansion-Dependent FMR1 Mis-Splicing in Fragile X Syndrome Restores FMRP
Contributors : Sneha Shah ; Sithara R Ponny ; Jonathan Lee ; Kevin J Sharp ; Jonathan Watts ; Elizabeth Berry-Kravis ; Joel D RichterSeries Type : Expression profiling by high throughput sequencingOrganism :Aberrant alternative splicing of mRNAs results in dysregulated gene expression in multiple neurological disorders. Here we show that hundreds of mRNAs are incorrectly expressed and spliced in white blood cells and brain tissue of individuals with fragile X syndrome (FXS). Surprisingly, the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene is transcribed in>70% of the FXS tissues. In all FMR1 expressing FXS tissues...
Source: GEO: Gene Expression Omnibus - June 14, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Source Type: research
Missing signals from Fragile astrocytes
Sci Signal. 2023 Jun 13;16(789):eadj1234. doi: 10.1126/scisignal.adj1234. Epub 2023 Jun 13.ABSTRACTThe loss of a secreted factor from astrocytes may underlie neuronal pathology in Fragile X syndrome.PMID:37311032 | DOI:10.1126/scisignal.adj1234 (Source: Science Signaling)
Source: Science Signaling - June 13, 2023 Category: Biomedical Science Authors: Leslie K Ferrarelli Source Type: research
Missing signals from Fragile astrocytes
Sci Signal. 2023 Jun 13;16(789):eadj1234. doi: 10.1126/scisignal.adj1234. Epub 2023 Jun 13.ABSTRACTThe loss of a secreted factor from astrocytes may underlie neuronal pathology in Fragile X syndrome.PMID:37311032 | DOI:10.1126/scisignal.adj1234 (Source: Science Signaling)
Source: Science Signaling - June 13, 2023 Category: Biomedical Science Authors: Leslie K Ferrarelli Source Type: research
