Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
(Source: Neuropsychiatric Disease and Treatment)
Source: Neuropsychiatric Disease and Treatment - November 29, 2022 Category: Psychiatry Tags: Neuropsychiatric Disease and Treatment Source Type: research
Chronic treatment with the anti-diabetic drug metformin rescues impaired brain mitochondrial activity and selectively ameliorates defective cognitive flexibility in a female mouse model of Rett syndrome
Neuropharmacology. 2022 Nov 25:109350. doi: 10.1016/j.neuropharm.2022.109350. Online ahead of print.ABSTRACTMetformin is the most common anti-diabetic drug and a promising therapy for disorders beyond diabetes, including Rett syndrome (RTT), a rare neurologic disease characterized by severe intellectual disability. A 10-day-long treatment rescued aberrant mitochondrial activity and restrained oxidative stress in a female RTT mouse model. However, this treatment regimen did not improve the phenotype of RTT mice. In the present study, we demonstrate that a 4-month-long treatment with metformin (150 mg/Kg/day, delivered in dr...
Source: Neuropharmacology - November 28, 2022 Category: Drugs & Pharmacology Authors: Chiara Urbinati Chiara Lanzillotta Livia Cosentino Daniela Valenti Maria Cristina Quattrini Livia Di Crescenzo Francesca Prestia Donatella Pietraforte Marzia Perluigi Fabio Di Domenico Rosa Anna Vacca Bianca De Filippis Source Type: research
Chronic treatment with the anti-diabetic drug metformin rescues impaired brain mitochondrial activity and selectively ameliorates defective cognitive flexibility in a female mouse model of Rett syndrome
Neuropharmacology. 2022 Nov 25:109350. doi: 10.1016/j.neuropharm.2022.109350. Online ahead of print.ABSTRACTMetformin is the most common anti-diabetic drug and a promising therapy for disorders beyond diabetes, including Rett syndrome (RTT), a rare neurologic disease characterized by severe intellectual disability. A 10-day-long treatment rescued aberrant mitochondrial activity and restrained oxidative stress in a female RTT mouse model. However, this treatment regimen did not improve the phenotype of RTT mice. In the present study, we demonstrate that a 4-month-long treatment with metformin (150 mg/Kg/day, delivered in dr...
Source: Neuropharmacology - November 28, 2022 Category: Drugs & Pharmacology Authors: Chiara Urbinati Chiara Lanzillotta Livia Cosentino Daniela Valenti Maria Cristina Quattrini Livia Di Crescenzo Francesca Prestia Donatella Pietraforte Marzia Perluigi Fabio Di Domenico Rosa Anna Vacca Bianca De Filippis Source Type: research
Chronic treatment with the anti-diabetic drug metformin rescues impaired brain mitochondrial activity and selectively ameliorates defective cognitive flexibility in a female mouse model of Rett syndrome
Neuropharmacology. 2022 Nov 25:109350. doi: 10.1016/j.neuropharm.2022.109350. Online ahead of print.ABSTRACTMetformin is the most common anti-diabetic drug and a promising therapy for disorders beyond diabetes, including Rett syndrome (RTT), a rare neurologic disease characterized by severe intellectual disability. A 10-day-long treatment rescued aberrant mitochondrial activity and restrained oxidative stress in a female RTT mouse model. However, this treatment regimen did not improve the phenotype of RTT mice. In the present study, we demonstrate that a 4-month-long treatment with metformin (150 mg/Kg/day, delivered in dr...
Source: Neuropharmacology - November 28, 2022 Category: Drugs & Pharmacology Authors: Chiara Urbinati Chiara Lanzillotta Livia Cosentino Daniela Valenti Maria Cristina Quattrini Livia Di Crescenzo Francesca Prestia Donatella Pietraforte Marzia Perluigi Fabio Di Domenico Rosa Anna Vacca Bianca De Filippis Source Type: research
Chronic treatment with the anti-diabetic drug metformin rescues impaired brain mitochondrial activity and selectively ameliorates defective cognitive flexibility in a female mouse model of Rett syndrome
Neuropharmacology. 2022 Nov 25:109350. doi: 10.1016/j.neuropharm.2022.109350. Online ahead of print.NO ABSTRACTPMID:36442649 | DOI:10.1016/j.neuropharm.2022.109350 (Source: Neuropharmacology)
Source: Neuropharmacology - November 28, 2022 Category: Drugs & Pharmacology Authors: Chiara Urbinati Chiara Lanzillotta Livia Cosentino Daniela Valenti Maria Cristina Quattrini Livia Di Crescenzo Francesca Prestia Donatella Pietraforte Marzia Perluigi Fabio Di Domenico Rosa Anna Vacca Bianca De Filippis Source Type: research
Extension of the Lifespan of a Mouse Model of Rett Syndrome by Intracerebroventricular Delivery of MECP2
(Source: Neuroscience Bulletin)
Source: Neuroscience Bulletin - November 14, 2022 Category: Neuroscience Source Type: research
Vocalisation Repertoire at the End of the First Year of Life: An Exploratory Comparison of Rett Syndrome and Typical Development
J Dev Phys Disabil. 2022;34(6):1053-1069. doi: 10.1007/s10882-022-09837-w. Epub 2022 Mar 8.ABSTRACTRett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based on home video recordings, we analysed the vocalisations between 9 and 11 months of age of three female infants with typical RTT and compared them to three age-matched typically deve...
Source: Health Physics - November 8, 2022 Category: Physics Authors: Katrin D Bartl-Pokorny Florian B Pokorny Dunia Garrido Bj örn W Schuller Dajie Zhang Peter B Marschik Source Type: research
Vocalisation Repertoire at the End of the First Year of Life: An Exploratory Comparison of Rett Syndrome and Typical Development
J Dev Phys Disabil. 2022;34(6):1053-1069. doi: 10.1007/s10882-022-09837-w. Epub 2022 Mar 8.ABSTRACTRett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based on home video recordings, we analysed the vocalisations between 9 and 11 months of age of three female infants with typical RTT and compared them to three age-matched typically deve...
Source: Health Physics - November 8, 2022 Category: Physics Authors: Katrin D Bartl-Pokorny Florian B Pokorny Dunia Garrido Bj örn W Schuller Dajie Zhang Peter B Marschik Source Type: research
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration
Conclusion
We suggest that X-linked neurodevelopmental disorders like CASK mutation and Rett syndrome are pathologically neurodegenerative; random X-chromosome inactivation in heterozygous mutant girls, however, results in 50% of cells expressing the functional gene, resulting in a non-progressive pathology, whereas complete loss of the only allele in boys leads to unconstrained degeneration and encephalopathy. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Patel, P. A., Hegert, J. V., Cristian, I., Kerr, A., LaConte, L. E. W., Fox, M. A., Srivastava, S., Mukherjee, K. Tags: Neurogenetics Source Type: research
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations
Translational Psychiatry, Published online: 18 October 2022; doi:10.1038/s41398-022-02216-1Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations (Source: Translational Psychiatry)
Source: Translational Psychiatry - October 18, 2022 Category: Psychiatry Authors: Rebecca S. F. Mok Wenbo Zhang Taimoor I. Sheikh Kartik Pradeepan Isabella R. Fernandes Leah C. DeJong Gabriel Benigno Matthew R. Hildebrandt Marat Mufteev Deivid C. Rodrigues Wei Wei Alina Piekna Jiajie Liu Alysson R. Muotri John B. Vincent Lyle Muller Ju Source Type: research
IJERPH, Vol. 19, Pages 13082: Sleep Respiratory Disturbances in Girls with Rett Syndrome
Spruyt
Individuals with Rett Syndrome (RTT), a rare neurodevelopmental disorder, present disordered breathing during wakefulness. Whilst findings on breathing during sleep are contradictory, the relation between sleep breathing and their clinical features, genetic characteristics, age, and sleep phase is rarely investigated, which is the objective of this study. Overnight polysomnography (PSG) was performed. Sleep macrostructure parameters were compared between the RTT subjects with and without sleep-disordered breathing (SDB). The association between the apnea–hypopnea index (AHI) with age at PSG was te...
Source: International Journal of Environmental Research and Public Health - October 12, 2022 Category: Environmental Health Authors: Xinyan Zhang Marcel Smits Leopold Curfs Karen Spruyt Tags: Article Source Type: research
Neuronal hyperexcitability and ion channel dysfunction in CDKL5-deficiency patient iPSC-derived cortical organoids
Neurobiol Dis. 2022 Oct 3:105882. doi: 10.1016/j.nbd.2022.105882. Online ahead of print.ABSTRACTEarly epilepsy is a prominent feature in patients with CDKL5-deficiency disorder (CDD). The underlying mechanism for excessive excitability in CDD is largely unknown. The brain organoid model has been recently developed to resemble many critical features of early human brain development. Here, we used a brain organoid model to investigate the cellular electrophysiological basis for hyper-excitability in CDD patients. Our study employed cortical organoids derived from two CDD patients harboring the same CDKL5 mutation (R59X) and ...
Source: Neurobiology of Disease - October 6, 2022 Category: Neurology Authors: Wei Wu Hang Yao Priscilla D Negraes Juan Wang Cleber A Trujillo Janaina S de Souza Alysson R Muotri Gabriel G Haddad Source Type: research
Neuronal hyperexcitability and ion channel dysfunction in CDKL5-deficiency patient iPSC-derived cortical organoids
Neurobiol Dis. 2022 Oct 3:105882. doi: 10.1016/j.nbd.2022.105882. Online ahead of print.ABSTRACTEarly epilepsy is a prominent feature in patients with CDKL5-deficiency disorder (CDD). The underlying mechanism for excessive excitability in CDD is largely unknown. The brain organoid model has been recently developed to resemble many critical features of early human brain development. Here, we used a brain organoid model to investigate the cellular electrophysiological basis for hyper-excitability in CDD patients. Our study employed cortical organoids derived from two CDD patients harboring the same CDKL5 mutation (R59X) and ...
Source: Neurobiology of Disease - October 6, 2022 Category: Neurology Authors: Wei Wu Hang Yao Priscilla D Negraes Juan Wang Cleber A Trujillo Janaina S de Souza Alysson R Muotri Gabriel G Haddad Source Type: research
Neuronal hyperexcitability and ion channel dysfunction in CDKL5-deficiency patient iPSC-derived cortical organoids
Neurobiol Dis. 2022 Oct 3:105882. doi: 10.1016/j.nbd.2022.105882. Online ahead of print.ABSTRACTEarly epilepsy is a prominent feature in patients with CDKL5-deficiency disorder (CDD). The underlying mechanism for excessive excitability in CDD is largely unknown. The brain organoid model has been recently developed to resemble many critical features of early human brain development. Here, we used a brain organoid model to investigate the cellular electrophysiological basis for hyper-excitability in CDD patients. Our study employed cortical organoids derived from two CDD patients harboring the same CDKL5 mutation (R59X) and ...
Source: Neurobiology of Disease - October 6, 2022 Category: Neurology Authors: Wei Wu Hang Yao Priscilla D Negraes Juan Wang Cleber A Trujillo Janaina S de Souza Alysson R Muotri Gabriel G Haddad Source Type: research
QTc interval and ventricular action potential prolongation in the Mecp2Null/+ murine model of Rett syndrome
QTc intervals and action potentials (APs) from ventricular myocytes were found to be prolonged in females from a murine model of Rett Syndrome (RTT). APs in ventricular myocytes from RTT mice were shortened by GS-6615, a late sodium current inhibitor. AbstractRett Syndrome (RTT) is a congenital, X-chromosome-linked developmental disorder characterized by developmental delay, dysautonomia, and breathing irregularities. RTT is also associated with sudden death and QT intervals are prolonged in some RTT patients. Most individuals with RTT have mutations in theMECP2 gene. Whilst there is some evidence for QT prolongation in mo...
Source: Physiological Reports - October 6, 2022 Category: Physiology Authors: Hongwei Cheng,
Ian Charles,
Andrew F. James,
Ana P. Abdala,
Jules C. Hancox Tags: ORIGINAL ARTICLE Source Type: research
