New drug target for Rett syndrome

A faulty signaling pathway has been identified that, when corrected, in mice ameliorates the symptoms of Rett syndrome, a devastating neurological condition. The findings could lead to the discovery of compounds or drugs that may benefit children affected by the disease.
Source: ScienceDaily Headlines - Category: Science Source Type: news

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Conclusions:Regarding patients with RS referred to the sleep medicine clinic, snoring and witnessed apneas were the most common presenting complaints. In addition to breathing abnormalities during wake, OSA was very common in our cohort. Further studies are needed to examine the pathogenesis of OSA in RS and relationships between disease genotype and respiratory abnormality phenotype.Citation:Sarber KM, Howard JJM, Dye TJ, Pascoe JE, Simakajornboon N. Sleep-disordered breathing in pediatric patients with rett syndrome.J Clin Sleep Med. 2019;15(10):1451–1457.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research
Conclusions: The results indicate that individuals with Rett syndrome can adapt their kinematic gait patterns in response to increasing treadmill speed, but only within a narrow range of speeds. We suggest that treadmill training for ambulatory individuals with Rett syndrome may promote improved walking kinematics and possibly provide overall health benefits. Implications for rehabilitation Walking is an activity that can counter the negative impacts of the sedentary lifestyle of many individuals with disabilities, including those individuals with Rett syndrome. Documentation of the lower limb kinematic patterns displayed ...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
This study presents the spectrum of MECP2 mutations in 50 Egyptian RTT females with identified gene mutation. Molecular analysis was carried out by direct sequencing of the gene coding region, followed by multiplex ligation-dependent probe amplification (MLPA) for patients without detected pathogenic variation. In total, 23 different disease-causing mutations, including 5 novel frameshift mutations, have been reported. In the study cohort, T158 M is the most common mutation (18%), followed by R270X (14%). Large rearrangements account for 10% of cases intensifying the emergency of gene quantitative analysis. This study pr...
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
This article suggests that systems biology, emphasizing the epigenetic component of systems biology, could help identify clinically useful biomarkers in neuropsychiatric disorders like SZ, BD, and MDD.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Abstract Nutritional supplements are traditionally employed for overall health and for managing some health conditions, although controversies are found concerning the role of antioxidants-mediated benefits in vivo. Consistently with its critical role in systemic redox buffering, red blood cell (RBC) is recognized as a biologically relevant target to investigate the effects of oxidative stress. In RBC, reduction of the ATP levels and adenylate energy charge brings to disturbance in intracellular redox status. In the present work, several popular antioxidant supplements were orally administrated to healthy adults a...
Source: Molecular and Cellular Biochemistry - Category: Biochemistry Authors: Tags: Mol Cell Biochem Source Type: research
Publication date: Available online 6 October 2019Source: Redox BiologyAuthor(s): Alessandra Pecorelli, Valeria Cordone, Nicolò Messano, Changqing Zhang, Stefano Falone, Fernanda Amicarelli, Joussef Hayek, Giuseppe ValacchiAbstractRett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene. RTT patients show multisystem disturbances associated with an oxinflammatory status. Inflammasomes are multi-protein complexes, responsible for host immune responses against pathogen infections and redox-related cellular stress. Assembly of NLRP3/ASC inflammasome triggers ...
Source: Redox Biology - Category: Biology Source Type: research
CONCLUSIONS: The U-PART intervention was found to be feasible and effective in the short term in girls and women with RTT. PMID: 31584667 [PubMed - as supplied by publisher]
Source: Physical Therapy - Category: Physiotherapy Authors: Tags: Phys Ther Source Type: research
Conclusion: This is the first case in the literature to demonstrate use of the Individualized Numeric Rating Scale with a child who is nonverbal during a potentially painful physical therapy procedure.
Source: Pediatric Physical Therapy - Category: Pediatrics Tags: CASE REPORTS Source Type: research
Conclusions: The participants improved functional ability, mood status, relations with family and schoolmates, joint mobility, muscle strength, and endurance during functional activities. Periodic evaluation of exercise heart rates averaged an increase in intensity of 33% above baseline, indicating cardiorespiratory stimulus. This pilot program provides clinical rationale for future studies and clinical interventions for RS children.
Source: Pediatric Physical Therapy - Category: Pediatrics Tags: CASE REPORTS Source Type: research
Rett syndrome is a neurodevelopmental disorder characterized by loss of speech and stereotypic movements. The TRAPPC11 protein is a part of the transport protein particle complex involved in endoplasmic reticulum to Golgi transportation. As more individuals with limb-girdle muscular dystrophy are reported, the spectrum of neurological disorders associated with mutations in the TRAPPC11 gene is beginning to emerge. Infantile hyperkinetic movements, ataxia and intellectual disability have been previously published.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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