Proteomic profiling reveals mitochondrial alterations in Rett syndrome.

In conclusion, our proteomic analysis confirms the pathological relevance of mitochondrial dysfunction in RTT pathogenesis and progression. PMID: 32445864 [PubMed - as supplied by publisher]
Source: Free Radical Biology and Medicine - Category: Biology Authors: Tags: Free Radic Biol Med Source Type: research

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Publication date: October 2020Source: Epilepsy &Behavior, Volume 111Author(s): Arun Meyyazhagan, Balamuralikrishnan Balasubramanian, Sankar Kathannan, Karthick Kumar Alagamuthu, Murugesh Easwaran, Sureshkumar Shanmugam, Manikantan Pappusamy, Haripriya Kuchi Bhotla, Shafiahammedkhan Mustaqahamed, Vijaya Anand Arumugam, Tanushri Kaul, Sasikala Keshavarao
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Abstract Rett syndrome (RTT) is a stern dominant progressive neurological development disorder linked with X chromosome ranking second for mental slowdown, exclusively in females after few months of birth with normal development and growth period. Genetically any defects in universally expressed methyl-CpG binding protein 2 (MeCP2) transcription regulator gene are considered as radix for RTT in almost all the previous studies. Our study mainly focuses in unraveling the genetic alterations like identifying MeCP2 gene polymorphisms, chromosomal abnormalities, or X-chromosome inactivation (XCI) as underlying cause of...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
The University of Rochester has been designated an Intellectual and Developmental Disabilities Research Center by the National Institute of Child Health and Human Development. The award recognizes the Medical Center ’s national leadership in research for conditions such Autism, Batten disease, and Rett syndrome, will translate scientific insights into new ways to diagnose and treat these conditions, and provide patients and families access to cutting edge care.
Source: University of Rochester Medical Center Press Releases - Category: Universities & Medical Training Authors: Source Type: news
Abstract Motor skill is a specific area of disability of Rett syndrome (RTT), a rare disorder occurring almost exclusively in girls, caused by loss-of-function mutations of the X-linked methyl-CpG-binding protein2 (MECP2) gene, encoding the MECP2 protein, a member of the methyl-CpG-binding domain nuclear proteins family. Brain 5-HT, which is defective in RTT patients and Mecp2 mutant mice, regulates motor circuits and SSRIs enhance motor skill learning and plasticity. In the present study, we used heterozygous (Het) Mecp2 female and Mecp2-null male mice to investigate whether fluoxetine, a SSRI with pleiotropic ef...
Source: Neuropharmacology - Category: Drugs & Pharmacology Authors: Tags: Neuropharmacology Source Type: research
Conclusion: These findings demonstrate that glutaminase inhibitors conjugated to dendrimers are a viable mechanism to selectively inhibit microglial GLS to reduce glutamate production and improve mobility in a mouse model of RTT, with broader implications for selectively targeting this pathway in other neurodegenerative disorders.
Source: Theranostics - Category: Molecular Biology Authors: Tags: Research Paper Source Type: research
Abstract Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder caused mainly by mutations in the MECP2 gene. One of the major RTT features is breathing dysfunction characterized by periodic hypo- and hyperventilation. The breathing disorders are associated with increased brainstem neuronal excitability, which can be alleviated with antagonistic agents. Since neuronal hypoexcitability occurs in the forebrain of RTT models, it is necessary to find pharmacological agents with a relative preference to brainstem neurons. Here we show evidence for the improvement of breathing disorders of Mecp2-null mice with t...
Source: Neuropharmacology - Category: Drugs & Pharmacology Authors: Tags: Neuropharmacology Source Type: research
Abstract Cyclin-dependent kinase-like 5 (CDKL5, also known as STK9) is a serine/threonine protein kinase originally identified in 1998 during a transcriptional mapping project of the human X chromosome. Thereafter, a mutation in CDKL5 was reported in individuals with the atypical Rett syndrome, a neurodevelopmental disorder, suggesting that CDKL5 plays an important regulatory role in neuronal function. The disease associated with CDKL5 mutation has recently been recognised as CDKL5 deficiency disorder (CDD) and has been distinguished from the Rett syndrome owing to its symptomatic manifestation. Because CDKL5 muta...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
Domingo Palacios-Ceña Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources. A qualitative case study was conducted among 31 parents of children with Rett syndrome. Data were collected through in-depth interviews, focus groups, researchers’ field notes and parents’ personal documents. A thematic analysis was performed and the Standards for Reporting Qualitative Research (SRQR) guidelines were followed...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
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Source: Pediatric Neurology - Category: Neurology Authors: Source Type: research
In the face of clinical and ethical obligations to improve quality of life for individuals with Rett syndrome (RTT), much research remains focused on functional impairments, despite RTT-specific domains of quality of life having recently been identified (12). The recent study by (5) critiques the design of the Rett Syndrome Behavioural Questionnaire (RSBQ) (8), its items, scales, domains and how these relate to clinical presentations of patients. The commentary in response from (9) is a critique of the sample used by (5) in their justification of refuting the RSBQ.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Opinion Paper Source Type: research
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