Heartwarming moment woman who has never been able to talk tell her mother 'I love you'

Pauline Worrall, from Kidderminster, was robbed of her movement and speech at the age of two at the hands of Rett syndrome, a rare brain disease that affects one in 12,000 kids.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Publication date: 24 March 2020Source: Cell Reports, Volume 30, Issue 12Author(s): Deivid C. Rodrigues, Marat Mufteev, Robert J. Weatheritt, Ugljesa Djuric, Kevin C.H. Ha, P. Joel Ross, Wei Wei, Alina Piekna, Maria A. Sartori, Loryn Byres, Rebecca S.F. Mok, Kirill Zaslavsky, Peter Pasceri, Phedias Diamandis, Quaid Morris, Benjamin J. Blencowe, James Ellis
Source: Cell Reports - Category: Cytology Source Type: research
Rett syndrome is an incurable neurodevelopmental disorder caused by mutations in the gene encoding for methyl-CpG binding-protein 2 (MeCP2). Gene therapy for this disease presents inherent hurdles sinceMECP2 is expressed throughout the brain and its duplication leads to severe neurological conditions as well. Herein, we use the AAV-PHP.eB to deliver an instability-proneMecp2 (iMecp2) transgene cassette which, increasing RNA destabilization and inefficient protein translation of the viralMecp2transgene, limits supraphysiological Mecp2 protein levels. Intravenous injections of the PHP.eB-iMecp2 virus in symptomaticMecp2 muta...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
Authors: Provvidenziale L, Cinotti E, Campoli M, Russo F, Rubegni P PMID: 32163043 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
Condition:   Rett Syndrome Interventions:   Drug: ANAVEX2-73 oral liquid;   Drug: Placebo oral liquid Sponsors:   Anavex Life Sciences Corp.;   Anavex Australia Pty Ltd.;   Anavex Germany GmbH Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Methylated cytosine is an effector of epigenetic gene regulation. In the brain, Dnmt3a is the sole ‘writer’ of atypical non-CpG methylation (mCH), and MeCP2 is the only known ‘reader’ for mCH. We asked if MeCP2 is the sole reader for Dnmt3a dependent methylation by comparing mice lacking either protein in GABAergic inhibitory neurons. Loss of either protein causes overlapping and distinct features from the behavioral to molecular level. Loss of Dnmt3a causes global loss of mCH and a subset of mCG sites resulting in more widespread transcriptional alterations and severe neurological dysfunction than ...
Source: eLife - Category: Biomedical Science Tags: Chromosomes and Gene Expression Neuroscience Source Type: research
No abstract available
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Conclusion Our study showed sleep dysfunction to be less prevalent in RTT-affected individuals than evidence from past studies has suggested. Nevertheless, this remains a subjective assessment of sleep quality and therefore the need to find objective, disorder-specific parameters that measure sleep quality in RTT patients persists. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - Category: Neurology Authors: Tags: Original Article Source Type: research
Abstract Mutations in X-linked gene methyl-CpG-binding protein 2 (MECP2), a key transcriptional regulator, account for most cases of Rett syndrome (RTT), a devastating neurodevelopmental disorder with no known cure. Despite extensive research to elucidate MeCP2 functions, the mechanisms underlying RTT pathophysiology are still unclear. In addition to a variety of neurological symptoms, RTT also includes a plethora of additional phenotypical features including altered lipid metabolism, redox imbalance, immune dysfunction and mitochondrial abnormalities that explain its multisystemic nature. Here, we provide an over...
Source: Free Radical Biology and Medicine - Category: Biology Authors: Tags: Free Radic Biol Med Source Type: research
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