Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions

Rett syndrome (RTT) and Fragile X syndrome (FXS) are two monogenetic neurodevelopmental disorders with complex clinical presentations. RTT is caused by mutations in the Methyl-CpG binding protein 2 gene (MECP2) altering the function of its protein product MeCP2. MeCP2 modulates gene expression by bi...

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Autores principales:	Snow Bach, Stephen Shovlin, Michael Moriarty, Barbara Bardoni, Daniela Tropea
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	Rett syndrome Fragile X syndrome synaptic plasticity FMRP MeCP2 neurodevelopmental disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/f731154bbfce4893bd006805e26bd252
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spelling	oai:doaj.org-article:f731154bbfce4893bd006805e26bd2522021-11-19T06:48:22ZRett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions1662-510210.3389/fncel.2021.764761https://doaj.org/article/f731154bbfce4893bd006805e26bd2522021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fncel.2021.764761/fullhttps://doaj.org/toc/1662-5102Rett syndrome (RTT) and Fragile X syndrome (FXS) are two monogenetic neurodevelopmental disorders with complex clinical presentations. RTT is caused by mutations in the Methyl-CpG binding protein 2 gene (MECP2) altering the function of its protein product MeCP2. MeCP2 modulates gene expression by binding methylated CpG dinucleotides, and by interacting with transcription factors. FXS is caused by the silencing of the FMR1 gene encoding the Fragile X Mental Retardation Protein (FMRP), a RNA binding protein involved in multiple steps of RNA metabolism, and modulating the translation of thousands of proteins including a large set of synaptic proteins. Despite differences in genetic etiology, there are overlapping features in RTT and FXS, possibly due to interactions between MeCP2 and FMRP, and to the regulation of pathways resulting in dysregulation of common molecular signaling. Furthermore, basic physiological mechanisms are regulated by these proteins and might concur to the pathophysiology of both syndromes. Considering that RTT and FXS are disorders affecting brain development, and that most of the common targets of MeCP2 and FMRP are involved in brain activity, we discuss the mechanisms of synaptic function and plasticity altered in RTT and FXS, and we consider the similarities and the differences between these two disorders.Snow BachSnow BachStephen ShovlinMichael MoriartyBarbara BardoniDaniela TropeaDaniela TropeaDaniela TropeaFrontiers Media S.A.articleRett syndromeFragile X syndromesynaptic plasticityFMRPMeCP2neurodevelopmental disordersNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENFrontiers in Cellular Neuroscience, Vol 15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Rett syndrome Fragile X syndrome synaptic plasticity FMRP MeCP2 neurodevelopmental disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	Rett syndrome Fragile X syndrome synaptic plasticity FMRP MeCP2 neurodevelopmental disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Snow Bach Snow Bach Stephen Shovlin Michael Moriarty Barbara Bardoni Daniela Tropea Daniela Tropea Daniela Tropea Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
description	Rett syndrome (RTT) and Fragile X syndrome (FXS) are two monogenetic neurodevelopmental disorders with complex clinical presentations. RTT is caused by mutations in the Methyl-CpG binding protein 2 gene (MECP2) altering the function of its protein product MeCP2. MeCP2 modulates gene expression by binding methylated CpG dinucleotides, and by interacting with transcription factors. FXS is caused by the silencing of the FMR1 gene encoding the Fragile X Mental Retardation Protein (FMRP), a RNA binding protein involved in multiple steps of RNA metabolism, and modulating the translation of thousands of proteins including a large set of synaptic proteins. Despite differences in genetic etiology, there are overlapping features in RTT and FXS, possibly due to interactions between MeCP2 and FMRP, and to the regulation of pathways resulting in dysregulation of common molecular signaling. Furthermore, basic physiological mechanisms are regulated by these proteins and might concur to the pathophysiology of both syndromes. Considering that RTT and FXS are disorders affecting brain development, and that most of the common targets of MeCP2 and FMRP are involved in brain activity, we discuss the mechanisms of synaptic function and plasticity altered in RTT and FXS, and we consider the similarities and the differences between these two disorders.
format	article
author	Snow Bach Snow Bach Stephen Shovlin Michael Moriarty Barbara Bardoni Daniela Tropea Daniela Tropea Daniela Tropea
author_facet	Snow Bach Snow Bach Stephen Shovlin Michael Moriarty Barbara Bardoni Daniela Tropea Daniela Tropea Daniela Tropea
author_sort	Snow Bach
title	Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
title_short	Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
title_full	Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
title_fullStr	Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
title_full_unstemmed	Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
title_sort	rett syndrome and fragile x syndrome: different etiology with common molecular dysfunctions
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/f731154bbfce4893bd006805e26bd252
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Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions

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