X chromosome reactivation could treat Rett syndrome, other X-linked disorders
(Massachusetts General Hospital) A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females.
Rett syndrome is a rare neurological disorder associated with a mutation in the X-linked gene MECP2. This disorder mainly affects females, who typically have seemingly normal early development followed by a regression of acquired skills. The rodent Mecp2 model exhibits many of the classic neural abnormalities and behavioral deficits observed in individuals with Rett syndrome. Similar to individuals with Rett syndrome, both auditory discrimination ability and auditory cortical responses are impaired in heterozygous Mecp2 rats.
AbstractDeficits in arginine vasopressin (AVP) and oxytocin (OT), two neuropeptides closely implicated in the modulation of social behaviours, have been reported in some early developmental disorders and autism spectrum disorders. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene are associated to Rett syndrome and other neuropsychiatric conditions. Thus, we first analysed AVP and OT expression in the brain ofMecp2-mutant mice by immunohistochemistry. Our results revealed no significant differences in these systems in young adultMecp2-heterozygous females, as compared to WT littermates. By contrast, we fo...
AON-platform with focus on therapies nearing phase I trials for forms of Spinocerebellar Ataxia and Huntington Disease Other early discovery stage RNA editing platform focuses on RETT syndrome Funding led by LSP, co-led by Kurma Partners, supported b... Biopharmaceuticals, Neurology, Venture Capital Vico Therapeutics, RNA modulating therapies
(Salk Institute) In research that aims to illuminate the causes of human developmental disorders, Salk scientists have generated 168 new maps of chemical marks on strands of DNA -- called methylation -- in developing mice. The data can help narrow down regions of the human genome that play roles in diseases such as schizophrenia and Rett Syndrome.
Abstract Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with expertise in augmentative and alternative communication (AAC) as it pertains to Rett syndrome. To address this need, international consensus-based guidelines for managing the communication of individuals with Rett syndrome were developed by combining available evidence and lived experience with expert opinion. A two-phase Delphi survey was built on statements an...
Publication date: August 2020Source: The Lancet Neurology, Volume 19, Issue 8Author(s): Jan Egebjerg, Richard G M Morris
Publication date: August 2020Source: The Lancet Neurology, Volume 19, Issue 8Author(s): Alexander J Sandweiss, Vicky L Brandt, Huda Y Zoghbi
To investigate walking ability in Japanese patients with Rett syndrome (RTT).
Publication date: Available online 15 July 2020Source: International Journal of Surgery Case ReportsAuthor(s): Carla M. Lopez, Mark L. Kovler, Eric B. Jelin
Introduction: Variants of CACNA1G, which encodes CaV3.1, have been reported to be associated with various neurological disorders.Methods: Whole-exome sequencing of genomic DNA from 348 Japanese patients with neurodevelopmental disorders and their parents was conducted, and de novo variants of CACNA1G were extracted. The electrophysiological properties of each mutant channel were investigated by voltage-clamp and current-clamp analyses of HEK293T cells overexpressing these channels.Results: Two patients diagnosed with Rett syndrome and West syndrome were found to have known pathological CACNA1G mutations reported in cerebel...