Deep Brain Stimulation Affects the Activity of Hundreds of Genes

Changes in gene activity levels after DBS appear to underlie improvements seen in a mouse model of Rett syndrome, a genetic disease that causes intellectual disability.
Source: The Scientist - Category: Science Tags: Daily News,The Scientist Source Type: news

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AbstractMeCP2 is an X-linked gene; its mutation causes Rett Syndrome (RTT), a severe neurodevelopmental disability that affects mainly girls. Acting as a transcription factor, the MeCP2 protein is able to regulate several hormone-related genes, such as the thyroid hormones (TH), which are known to play an important role in the development of the central nervous system (CNS). Although only a few studies have associated RTT and TH, TH deficit can lead to neurological deregulation by triggering functional deficiencies during adulthood. Here, we used human-induced pluripotent stem cell (iPSC) to generate MeCP2-knockout neurona...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Abstract Genes and environmental stimuli cooperate in the regulation of brain development and formation of the adult neuronal architecture. Genetic alterations or exposure to perturbing environmental conditions, therefore, can lead to altered neural processes associated with neurodevelopmental disorders and brain disabilities. In this context, environmental enrichment emerged as a promising and noninvasive experimental treatment for favoring recovery of cognitive and sensory functions in different neurodevelopmental disorders. The aim of this review is to depict, mainly through the much explicative examples of amb...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
Conclusions: These preliminary results reveal decreased uptake of [11C]UCB-J in the Rett syndrome mouse model are consistent with the hypothesis that the loss of Mecp2 gene may result in decreased synaptic density in the cerebral cortex. Studies are ongoing to increase the sample size that may inform future investigation into whether [11C]UCB-J imaging can serve as a valid biomarker in individuals with Rett syndrome.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Basic Science I (Neurosciences) Source Type: research
CONCLUSION: This is the first study to identify QOL domains important for adults with RTT. Health and therapy needs are ongoing during adulthood but services may be limited. Findings will guide choice of an appropriate QOL measure for this group. IMPLICATIONS FOR REHABILITATION Knowing the important domains of quality of life enables clinicians and service providers to systematically review and address key management issues. Despite a high level of dependency and sometimes poor health, parent caregivers perceive potential for strong quality of life in adulthood. Services that maintain functional skills and health throughou...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
In conclusion, we further advanced the molecular understanding of mitochondrial dysfunction in RTT. Intensified mitochondrial O2 consumption, increased mitochondrial ROS generation and disturbed redox balance in mitochondria and cytosol may represent a causal chain, which provokes dysregulated proteins, oxidative tissue damage, and contributes to neuronal network dysfunction in RTT. Introduction Rett syndrome (RTT) is a progressive neurodevelopmental disorder. It primarily affects females, who show the first obvious symptoms within 6–18 months after birth. Among the characteristics are a regression of mental ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
CONCLUSION: Integrative analysis of omics data and prior knowledge databases is a powerful approach to identify links between mutation and phenotype especially in rare disease research where little data is available. PMID: 30907210 [PubMed - as supplied by publisher]
Source: The World Journal of Biological Psychiatry - Category: Psychiatry Authors: Tags: World J Biol Psychiatry Source Type: research
ConclusionsInitial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability. It has the potential to allow clearer identification of support needs and measure responsiveness to interventions.
Source: Quality of Life Research - Category: Health Management Source Type: research
ConclusionThe 24-week music therapy program was effective in improving social interaction, communication skills, eye contact, hand function, and reducing seizure frequency among RTT patients. Additionally, music therapy was effective in relieving parenting stress, which may help healthcare providers initiate early intervention strategies that can prevent parenting stress and reduce the risk of depression.
Source: Journal of the Formosan Medical Association - Category: General Medicine Source Type: research
CONCLUSION: The 24-week music therapy program was effective in improving social interaction, communication skills, eye contact, hand function, and reducing seizure frequency among RTT patients. Additionally, music therapy was effective in relieving parenting stress, which may help healthcare providers initiate early intervention strategies that can prevent parenting stress and reduce the risk of depression. PMID: 30670340 [PubMed - as supplied by publisher]
Source: J Formos Med Assoc - Category: General Medicine Authors: Tags: J Formos Med Assoc Source Type: research
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