For more than two decades, FMRP has been well established as a translational repressor however, recent whole transcriptome and translatome analyses in mouse and human models of FXS have shown that FMRP is involved in the regulation of nearly all aspects of gene expression. Although the neurophysiology of FXS has been described in remarkable detail, research focusing on the molecular biology of FMRP has only scratched the surface. FMRP is a widely expressed RNA-binding protein with activity that is essential for proper synaptic plasticity and architecture, aspects of neural function that are known to go awry in FXS.
2021.įragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation 1 gene (FMR1), a gene that – when epigenetically inactivated by a triplet nucleotide repeat expansion – causes the neurodevelopmental disorder fragile X syndrome (FXS). The molecular biology of FMRP : new insights into fragile X syndrome. Transition to adulthood for individuals with autism : addressing the knowledge gap. Lien vers le texte intégral (Open Access ou abonnement)Ģ. Collectively, these results suggested that the synthesis rate of immunogenic LPS end products is likely to increase in individuals with ASD, which may be related to their gastrointestinal symptoms and elevated inflammatory conditions. Furthermore, the 10 genera with the greatest increase in individuals with ASD showed high potential for producing late-stage lipid A products. However, Haemophilus and Escherichia, which were significantly more abundant in individuals with ASD than in the control subjects, possess a complete set of essential lipid A synthesis enzymes. Analysis of enzyme distribution among the 15 most abundant genera in both groups revealed that almost all these genera utilized five early-stage enzymes responsible for catalyzing the nine conserved lipid A synthesis steps. Therefore, in silico analysis was performed on mined data from 36 individuals with ASD and 21 control subjects, with an emphasis on lipid A endotoxin-producing bacteria and their lipopolysaccharide (LPS) metabolic pathways. Gastrointestinal problems are one of the major symptoms of ASD and are thought to be related to immune dysregulation.
The link between autism spectrum disorder (ASD) and the gut microbiome has received much attention, with special focus on gut-brain-axis immunological imbalances. Gut Microbiome-Based Analysis of Lipid A Biosynthesis in Individuals with Autism Spectrum Disorder : An In Silico Evaluation.
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