Numerous neurological and non-neurological disorders are associated with dysfunction of epigenetic modulators, and methyl CpG binding protein 2 (MeCP2) is one of such proteins. Initially identified as a transcriptional repressor, MeCP2 specifically binds to methylated DNA, and mutations of MeCP2 have been shown to cause Rett syndrome (RTT), a severe neurological disorder. Recently, accumulating evidence suggests that ubiquitously expressed MeCP2 also plays a central role in non-neurological disorders including cardiac dysfunction, liver injury, respiratory disorders, urological dysfunction, adipose tissue metabolism disorders, movement abnormality and inflammatory responses in a DNA methylation dependent or independent manner. Despite significant progresses in our understanding of MeCP2 over the last few decades, there is still a considerable knowledge gap to translate the in vitro and in vivo experimental findings into therapeutic interventions. In this review, we provide a synopsis of the role of MeCP2 in the pathophysiology of non-neurological disorders, MeCP2-based research directions and therapeutic strategies for non-neurological disorders are also discussed.
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http://dx.doi.org/10.1016/j.abb.2021.108768 | DOI Listing |
Unlabelled: ICANS is a common form of neurological immunotoxicity from CAR T-cell therapy (CAR-T). While high tumor burden, product type and cell dose are established risk factors, there are many unknowns. Our objective was to characterize novel neurological and non-neurological risk factors for the development of ICANS in subjects who received CAR-T.
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December 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Background: Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) is an ultrarare neurodegenerative disorder inherited in an autosomal recessive manner, mainly marked by progressive ataxia and axonal polyneuropathy. SCAN1 is mainly caused by the c.1478A>G:p.
View Article and Find Full Text PDFJ Magn Reson Imaging
January 2025
Developing Brain Institute, Children's National Hospital, Washington, D.C., USA.
The biochemical composition and structure of the brain are in a rapid change during the exuberant stage of fetal and neonatal development. H-MRS is a noninvasive tool that can evaluate brain metabolites in healthy fetuses and infants as well as those with neurological diseases. This review aims to provide readers with an understanding of 1) the basic principles and technical considerations relevant to H-MRS in the fetal-neonatal brain and 2) the role of H-MRS in early fetal-neonatal development brain research.
View Article and Find Full Text PDFFront Pediatr
January 2025
Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic spectrum with a continuum of severity, making it challenging to predict the phenotype in very young children and differentiate between acute and chronic neurovisceral disease. No disease-specific treatments existed for ASMD.
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January 2025
Neuromuscular Department, Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Neuroinflammation impacts on the progression of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. Specialized pro-resolving mediators trigger the resolution of inflammation. We investigate the specialized pro-resolving mediator blood profile and their receptors' expression in peripheral blood mononuclear cells in relation to survival in ALS.
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