Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data
Conclusion: Patients with RTT experience a high burden of GI manifestations, which translate to considerable medical costs. Importantly, the prevalence of GI manifestations was likely underestimated in this study, as only those symptoms which resulted in a healthcare encounter were captured.PMID:37971297 | DOI:10.57264/cer-2023-0054 (Source: Journal of Comparative Effectiveness Research)
Source: Journal of Comparative Effectiveness Research - November 16, 2023 Category: General Medicine Authors: Damian M May Jeffrey Neul Jes ús Eric Piña-Garza Kal é Kponee-Shovein Ambika Satija Malena Mahendran Nathaniel Downes Kristy Sheng Neema Lema Andra Boca Patrick Lefebvre Victor Abler James M Youakim Wendy Y Cheng Source Type: research
Trofinetide —a new chapter in rett syndrome’s treatment
Trofinetide is the first drug approved by the FDA to treat Rett Syndrome in children aged 2 years or above. The drug significantly improved Rett syndrome behavioral scores Rett syndrome behavioral questionnaire in clinical studies. Although further research is needed to assess potential adverse events, Trofinetide’s notable efficacy signifies a significant advancement in Rett syndrome treatment, offering a new therapeutic avenue with the potential to ameliorate the condition. (Source: Frontiers in Pharmacology)
Source: Frontiers in Pharmacology - November 16, 2023 Category: Drugs & Pharmacology Source Type: research
Imaging the binding of MECP2 to DNA [Outlook]
Mutations in the methyl-DNA binding domain of MECP2 cause Rett syndrome; however, distinct mutations are associated with different severity of the disease. Live-cell imaging and single-molecule tracking are sensitive methods to quantify the DNA binding affinity and diffusion dynamics of nuclear proteins. In this issue of Genes & Development, Zhou and colleagues (pp. 883–900) used these imaging methods to quantitatively describe the partial loss of DNA binding resulting from a novel pathological MECP2 mutation with intermediate disease severity. These data demonstrate how single-molecule tracking can advance under...
Source: Genes and Development - November 13, 2023 Category: Genetics & Stem Cells Authors: West, A. E. Tags: Development, Chromatin and Gene Expression, Neurobiology Outlook Source Type: research
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels [Research Papers]
Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and typically cause severe encephalopathy and premature lethality. Recently, we identified a missense mutation (c.353G>A, p.Gly118Glu [G118E]), which has never been seen before in MECP2, in a young boy who suffered from progressive motor dysfunction and developmental delay. To determine whether this variant caused the clinical symptoms and study its functional consequences, we established two disease models, including human neurons from patient-derived...
Source: Genes and Development - November 13, 2023 Category: Genetics & Stem Cells Authors: Zhou, J., Cattoglio, C., Shao, Y., Tirumala, H. P., Vetralla, C., Bajikar, S. S., Li, Y., Chen, H., Wang, Q., Wu, Z., Tang, B., Zahabiyon, M., Bajic, A., Meng, X., Ferrie, J. J., LaGrone, A., Zhang, P., Kim, J. J., Tang, J., Liu, Z., Darzacq, X., Heintz, Tags: Research Papers Source Type: research
Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study
ConclusionsThus, auditory ERPs inform us about abnormalities within auditory processing that cannot be fully overcomed by slowing presentation rate. (Source: Molecular Autism)
Source: Molecular Autism - October 26, 2023 Category: Molecular Biology Source Type: research
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
Rett syndrome is a neuropediatric disease occurring due to mutations in MECP2 and characterized by a regression in the neuronal development following a normal postnatal growth, which results in the loss of acquir... (Source: Journal of Translational Medicine)
Source: Journal of Translational Medicine - October 26, 2023 Category: Research Authors: Uliana Musokhranova, Cristina Grau, Cristina Vergara, Laura Rodr íguez-Pascau, Clara Xiol, Alba A. Castells, Soledad Alcántara, Pilar Rodríguez-Pombo, Pilar Pizcueta, Marc Martinell, Angels García-Cazorla and Alfonso Oyarzábal Tags: Research Source Type: research
GSE245024 Activity-induced MeCP2 phosphorylation regulates retinogeniculate synapse refinement [snRNA-Seq]
Contributors : Christopher P Tzeng ; Tess Whitwam ; Lisa D Boxer ; Michael E GreenbergSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMutations in MECP2 give rise to Rett syndrome (RTT), an X-linked neurodevelop- mental disorder that results in broad cognitive impairments in females. While the exact etiology of RTT symptoms remains unknown, one possible explanation for its clinical presentation is that loss of MeCP2 causes miswiring of neural circuits due to defects in the brain ’s capacity to respond to changes in neuronal activity and sensory experience. Here, we show that MeCP2 ...
Source: GEO: Gene Expression Omnibus - October 15, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE245022 Activity-induced MeCP2 phosphorylation regulates retinogeniculate synapse refinement [RNA-Seq]
Contributors : Christopher P Tzeng ; Tess Whitwam ; Lisa D Boxer ; Michael E GreenbergSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMutations in MECP2 give rise to Rett syndrome (RTT), an X-linked neurodevelop- mental disorder that results in broad cognitive impairments in females. While the exact etiology of RTT symptoms remains unknown, one possible explanation for its clinical presentation is that loss of MeCP2 causes miswiring of neural circuits due to defects in the brain ’s capacity to respond to changes in neuronal activity and sensory experience. Here, we show that MeCP2 ...
Source: GEO: Gene Expression Omnibus - October 15, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE245021 Activity-induced MeCP2 phosphorylation regulates retinogeniculate synapse refinement [ChIP-Seq]
Contributors : Christopher P Tzeng ; Tess Whitwam ; Lisa D Boxer ; Michael E GreenbergSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusMutations in MECP2 give rise to Rett syndrome (RTT), an X-linked neurodevelop- mental disorder that results in broad cognitive impairments in females. While the exact etiology of RTT symptoms remains unknown, one possible explanation for its clinical presentation is that loss of MeCP2 causes miswiring of neural circuits due to defects in the brain ’s capacity to respond to changes in neuronal activity and sensory experience. Here, we sh...
Source: GEO: Gene Expression Omnibus - October 15, 2023 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
ConclusionThe top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 13, 2023 Category: Neurology Source Type: research
Translation, cross-cultural adaptation and validation of the Rett syndrome motor evaluation scale (RESMES): Spanish version
CONCLUSIONS: The Spanish version of the RESMES is a reliable and valid tool for the functional assessment and follow-up of patients with RTT.PMID:37788534 | DOI:10.1016/j.ejpn.2023.09.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - October 3, 2023 Category: Neurology Authors: R P Romero-Galisteo E Pinero-Pinto R Palomo-Carri ón C Luque-Moreno G Molina-Torres M Gonz ález-Sánchez Source Type: research
