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Angelman Syndrome - DOAJ

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Last Updated: 10 July 2022

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Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

According to previous studies, the silenced paternal Ube3a gene can be stimulated by targeting the antisense Ube3a-ATS transcript. We investigated antisense oligonucleotide (u2013) degradation in a well-established UBE3A mouse model, as well as its ability to induce UBE3A transcription and rescue of AS phenotypes. A single intracerebroventricular injection of ASOs in AS mice on either postnatal day 1 or P21 resulted in potent and specific UBE3A recovery in the brain, with levels up to 74% of WT levels in the cortex and a complete restore of sensitivity to audiogenic seizures.

Source link: https://doaj.org/article/4d87e9763e67445f825996968575d00d


Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case–Controlled Study

Results: The Family Inventory of Sleep Habits (Failure) of Sleep Habits (Finn) showed that children with AS had significantly earlier bedtimes and poorer sleep quality than TD children. According to the parent study, a greater number of children with AS had frequent night waking difficulties than those with TD children. Conclusions: Between the two groups, there were no significant differences in sleep hygiene and excessive daytime sleepiness. This variability could help with assessment and intervention in children with AS, as averages of total sleep over a 7-day period may not reflect the difficulties with night waking highlighted by parental questionnaire results.

Source link: https://doi.org/10.3389/fpsyt.2019.00874


From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study.

Angelman syndrome is a rare neurogenetic disorder due to the absence of expression of maternal ubiquitin-protein ligase E3A gene. Using Bayley III and Gross Motor Function Measures, the developmental delay and motor dysfunction were determined. High-resolution T1-weighted photographs were obtained, and a FSL-VBM strategy was used to investigate differences in the local GM production as well as to measure regional variation in GM's regional distribution. In comparison to control children in the striatum, limbic organs, insular and orbitofrontal cortices, we observed bilateral GM volume loss in AS relative to control children. In the superior parietal lobule and precuneus on the left hemisphere, a strong relationship with GM volume was discovered in the superior parietal lobule and precuneus. Anatomical manifestations of cortical/subcortical GM changes are often related to various medical signs of the disease and may be a key morphological basis for clinical and neurobehavioral complaints in children with AS.

Source link: https://doi.org/10.1371/journal.pone.0162817


Effects of Robotic Interactive Gait Training Combined with Virtual Reality and Augmented Reality on Balance, Gross Motor Function, Gait Kinetic, and Kinematic Characteristics in Angelman Syndrome: A Case Report

The robotic interactive gait training system is designed to give accurate prognostive, kinematic, and kinetic feedback, as well as virtual reality and augmented reality interactive exercises during gait training. During gait, we found RIGT with improved gait ability, as shown by the Performance-Oriented Mobility Assessment score, gross motor function by Gross Motor Function Measure, balance by Pediatric Balance Scale score, knee and hip joint kinetics, and kinematics during gait. Our scientific and biomechanical results contribute to the advancement of current neurorehabilitation strategies for treating patients with AS in balance and locomotor control, as well as decreasing the risk of falling.

Source link: https://doi.org/10.3390/children9040544


Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice

We've devised an AS treatment program based on reinstating dual-isoform expression of human UBE3A in the developing brain. Our codon-optimized vector technology enabled translation of both short and long hUBE3A protein isoforms in a near-endogenous 3:1 ratio, a feature that may help ensure optimal therapeutic outcomes. We converted the hUBE3Aopt vector into PHP. B capsids and administered intracerebroventricular injections in neonates to simulate widespread brain delivery and early postnatal onset of hUBE3A expression.

Source link: https://doaj.org/article/888b4e1fb7f544c69593f51d6a0911fc


AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome

In the untranslated Ube3a1 transcript, a cluster of microRNA binding sites was found, including for miR-134, indicating that AS may be linked to microRNA dysregulation. Nevertheless, an antimR oligonucleotide inhibitor of miR-134 reduced audiogenic seizure severity during multiple experiments in 21- and 42-day-old AS mice. In the open-field experiment, Ant-134 reportedly increased distance traveled and center crossings of AS mice. We also show that silencing miR-134 in neurons can upregulate miR-134 targets in neurons differentiated from Angelman patient-derived pluripotent stem cells.

Source link: https://doi.org/10.1016/j.omtn.2022.04.009


Angelman syndrome: review of clinical and molecular aspects

Angelman syndrome is a neurodevelopmental disorder with a distinctive physical appearance, intellectual impairment, lack of speech, seizures, and a standardized behavioral profile, according to Lynne M Bird1Department of Pediatrics, University of California, Department of Genetics, Rady Children's Hospital, San Diego, California, USA. AS is a result of poor expression of the ubiquitin protein ligase E3A gene, which causes paternal imprinting. Many questions about how much of the observed neurodevelopmental deficits can be explained by insufficiency of E6-AP, the protein component of UBE3A. UBE3A has been implicated in experience-dependent synaptic remodeling, according to Imprinting. Angelman syndrome, chromosome 15q11-13, UBE3A.

Source link: https://doaj.org/article/78618e18206d4ca8ba49ea10a477dd62


Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models.

Childhood neurodevelopmental disorders such as Angelman syndrome and autism may be the result of neural plasticity deficiency deficiencies and persistent synaptic signaling difficulties. In Ube3a deficient and Ube3a duplicate animals, we investigated monoamine levels in striatum, ventral midbrain, frontal cerebral cortex, cerebellar cortex, and hippocampus. Regardless of genotype in Ube3a deficient and Ube3a duplication rabbits, testosterone levels were almost consistently elevated in the striatum, midbrain, and frontal cortex, almost identical to control littermates in the striatum, midbrain, and frontal cortex, regardless of genotype in Ube3a deficient and Ube3a duplication animals. According to previously published results, paternal but not maternal duplication animals in the duplication 15q autism mouse model showed a decrease in 5HT levels when compared to their wild type littermates. These abnormal monoamine levels in both AS and autism may be responsible for several of the behavioral abnormalities observed in both AS and autism, but further research is required to determine if any of these changes are solely dependent on Ube3a levels in the brain.

Source link: https://doi.org/10.1371/journal.pone.0043030


A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing

By genetic analysis, we have found a case of fundus oculi albinoticus diagnosed as Angelman syndrome. Case Report: This report focuses on a 4-year-old boy. On chromosome 15, a deletion in the Prader-Willi syndrome/AS region was identified as AS, which was combined with the results of methylation analysis. No change was made in the fundus oculi albinoticus and optic atrophy, nor did they indicate poor visual tracking, according to follow-up reports. AS should be considered as a differential diagnosis when fundus oculi albinoticus and optic atrophy are present in patients with multiple malformations.

Source link: https://doi.org/10.1159/000485964

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions