Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities / Dayne MARTINEZ in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities Type de document : texte imprimé Auteurs : Dayne MARTINEZ, Auteur ; Evan JIANG, Auteur ; Zhaolan ZHOU, Auteur Langues : Anglais (eng) Mots-clés : Female  Humans  Pregnancy  Chromosomes, Human, X  Genes, X-Linked/genetics  Intellectual Disability/genetics  Mosaicism  X Chromosome Inactivation/genetics Index. décimale : PER Périodiques Résumé : X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. This is because most genes on the X chromosome are subject to random X chromosome inactivation (XCI) during early embryonic development, which results in a mosaic pattern of gene expression for a given X-linked mutant allele. This mosaic expression produces substantial complexity, especially when attempting to study the already complicated neural circuits that underly behavior, thus impeding the understanding of disease-related pathophysiology and the development of therapeutics. Here, we review a few selected X-linked forms of ID that predominantly affect heterozygous females and the current obstacles for developing effective therapies for such disorders. We also propose a genetic strategy to overcome the complexity presented by mosaicism in heterozygous females and highlight specific tools for studying synaptic and circuit mechanisms, many of which could be shared across multiple forms of intellectual disability. En ligne : https://dx.doi.org/10.1186/s11689-024-09517-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities [texte imprimé] / Dayne MARTINEZ, Auteur ; Evan JIANG, Auteur ; Zhaolan ZHOU, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Female  Humans  Pregnancy  Chromosomes, Human, X  Genes, X-Linked/genetics  Intellectual Disability/genetics  Mosaicism  X Chromosome Inactivation/genetics Index. décimale : PER Périodiques Résumé : X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. This is because most genes on the X chromosome are subject to random X chromosome inactivation (XCI) during early embryonic development, which results in a mosaic pattern of gene expression for a given X-linked mutant allele. This mosaic expression produces substantial complexity, especially when attempting to study the already complicated neural circuits that underly behavior, thus impeding the understanding of disease-related pathophysiology and the development of therapeutics. Here, we review a few selected X-linked forms of ID that predominantly affect heterozygous females and the current obstacles for developing effective therapies for such disorders. We also propose a genetic strategy to overcome the complexity presented by mosaicism in heterozygous females and highlight specific tools for studying synaptic and circuit mechanisms, many of which could be shared across multiple forms of intellectual disability. En ligne : https://dx.doi.org/10.1186/s11689-024-09517-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The Function of MeCP2 and Its Causality in Rett Syndrome / Janine M. LAMONICA  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : The Function of MeCP2 and Its Causality in Rett Syndrome Type de document : texte imprimé Auteurs : Janine M. LAMONICA, Auteur ; Zhaolan ZHOU, Auteur Année de publication : 2016 Importance : p.101-112 Langues : Anglais (eng) Mots-clés : Autism  MeCP2  Mouse models  Rett syndrome  Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Methyl-CpG binding protein 2 (MeCP2) is a member of the methyl-CpG binding domain family of nuclear proteins with binding affinity for methylated deoxyribonucleic acid. Mutations in the X-linked MECP2 gene are the monogenic origin of Rett syndrome (RTT), a neurological disorder that is the most common cause of intellectual disability in young girls. After a period of normal development, patients lose learned language and motor skills and develop numerous symptoms including seizures, repetitive hand movements, respiratory irregularities, and autistic-like features. The pathogenic mechanisms by which dysfunction of the ubiquitously expressed MeCP2 leads to the unique symptoms of RTT have been intensely studied for 15 years. This chapter highlights the still-evolving concept of MeCP2 as a multifunctional protein and our current understanding of the molecular mechanisms and synaptic dysfunction underlying RTT through the study of Mecp2 mouse models. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00007-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA The Function of MeCP2 and Its Causality in Rett Syndrome [texte imprimé] / Janine M. LAMONICA, Auteur ; Zhaolan ZHOU, Auteur . - 2016 . - p.101-112. Langues : Anglais (eng) Mots-clés : Autism  MeCP2  Mouse models  Rett syndrome  Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Methyl-CpG binding protein 2 (MeCP2) is a member of the methyl-CpG binding domain family of nuclear proteins with binding affinity for methylated deoxyribonucleic acid. Mutations in the X-linked MECP2 gene are the monogenic origin of Rett syndrome (RTT), a neurological disorder that is the most common cause of intellectual disability in young girls. After a period of normal development, patients lose learned language and motor skills and develop numerous symptoms including seizures, repetitive hand movements, respiratory irregularities, and autistic-like features. The pathogenic mechanisms by which dysfunction of the ubiquitously expressed MeCP2 leads to the unique symptoms of RTT have been intensely studied for 15 years. This chapter highlights the still-evolving concept of MeCP2 as a multifunctional protein and our current understanding of the molecular mechanisms and synaptic dysfunction underlying RTT through the study of Mecp2 mouse models. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00007-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

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