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Exploring the Neurobiological Mechanisms of Fragile X Syndrome – Mutations
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category-fragile-x-syndrome tag-behavior-alteration tag-cognitive-decline tag-fmr1-gene tag-fmrp-protein tag-fragile-x-syndrome tag-gene-treatment tag-genetic-mutation tag-mglur5-signal-transduction tag-neurodevelopment tag-synaptic-change" itemtype="https://schema.org/CreativeWork" itemscope> <div class="inside-article"> <div class="featured-image page-header-image-single "> <img width="1200" height="628" src="https://mutation.blog/archive/wp-content/uploads/2024/10/banner-21-min-scaled-e1728302180588.jpg" class="attachment-full size-full" alt="" itemprop="image" decoding="async" fetchpriority="high" /> </div> <header class="entry-header"> <h1 class="entry-title" itemprop="headline">Exploring the Neurobiological Mechanisms of Fragile X Syndrome</h1> <div class="entry-meta"> <span class="posted-on"><time class="entry-date published" datetime="2024-10-07T17:26:28+05:30" itemprop="datePublished">October 7, 2024</time></span> <span class="byline">by <span class="author vcard" itemprop="author" itemtype="https://schema.org/Person" itemscope><a class="url fn n" href="https://mutation.blog/archive/author/mutation/" title="View all posts by mutation" rel="author" itemprop="url"><span class="author-name" itemprop="name">mutation</span></a></span></span> </div> </header> <div class="entry-content" itemprop="text"> <h3><b>Introduction</b></h3> <p><span style="font-weight: 400;">FXS is the only known cause of intellectual disability, being primarily inherited as well as being one of the major genetic autism spectrum disorders. This results from a mutation of the FMR1 gene in the X chromosome, which results in deficiency or absence of fragile X mental retardation protein (FMRP). This protein is essential in developing neural cells, and its deficiency brings various problems of neural cell detection in the spectrum of cognitive, behavioral, and physical abnormalities that happen in different cerebral processes. New developments in neuroscience have started deciphering some of the disorder’s neurobiological substrates, information that might open the possibility of better treatment and prevention strategies for FXS.</span></p> <h3><b>The Role of the FMR1 Gene and FMRP</b><b><br /> </b></h3> <p><span style="font-weight: 400;">The main characteristic of FXS is the FMR1 gene, which has a CGG trinucleotide repeat in its promoter region. In normal individuals, this repeat ranges from 5 to 44 repeats, while for individuals with FXS, this repeat is more than 200, and this results in hypermethylation of the gene, and thus the FMR1 gene is silenced. The consequence is a decrease or absence of FMRP level that affects synaptic function and plasticity.</span></p> <p><span style="font-weight: 400;">It also works to scan synapses, which are the regions in the neurons that are involved in communication and control their protein synthesis process. This occurs in your synapses and is responsible for the activity-dependent translation of some specific messenger RNA (mRNA) into proteins. It is essential for the synapse maturation and pruning that are of utmost importance during the normal development of the brain. Failing to have FMRP dissipate these procedures causes the manufacture of excess invalidated synapses that are not pruned. This synaptic dysregulation is a main factor in the gene, native, and behavioral features in FXS, and this mechanism is accountable for the cognitive deficit in the FXS rodent model.</span></p> <p></div></div> <div style="background: #f7f7f7;border: 1px solid rgba(0, 0, 0, 0.07);"> <div style="padding: 30px;"><div class="Adblock-main"> <div class="Adblock-head"> <h2>Yearwise Publication Trend on <b>“<a href="https://mutation.blog/publication-trends/index/fragile x syndrome" target="_blank" title="fragile x syndrome - yearwise publication trends">fragile x syndrome</a>”</b></h2> </div> </div><div class="results-container"><div class="chart-block" style="padding:15px;"> <div class="left"> <div id="results" class="results"></div> </div> <div class="right"> <div class="chart-container"><canvas id="publicationChart"></canvas></div> </div> <div class="keywordsdiv"> <div style="text-align:center;"><b>Find publication trends on relevant topics</b> </div> <span class="gp-icon icon-tags"><svg viewBox="0 0 512 512" aria-hidden="true" xmlns="http://www.w3.org/2000/svg" width="1em" height="1em"><path d="M20 39.5c-8.836 0-16 7.163-16 16v176c0 4.243 1.686 8.313 4.687 11.314l224 224c6.248 6.248 16.378 6.248 22.626 0l176-176c6.244-6.244 6.25-16.364.013-22.615l-223.5-224A15.999 15.999 0 00196.5 39.5H20zm56 96c0-13.255 10.745-24 24-24s24 10.745 24 24-10.745 24-24 24-24-10.745-24-24z"></path><path d="M259.515 43.015c4.686-4.687 12.284-4.687 16.97 0l228 228c4.686 4.686 4.686 12.284 0 16.97l-180 180c-4.686 4.687-12.284 4.687-16.97 0-4.686-4.686-4.686-12.284 0-16.97L479.029 279.5 259.515 59.985c-4.686-4.686-4.686-12.284 0-16.97z"></path></svg></span> <span id="keyword-stats"></span> </div> </div></div></div><div class="inside-article"><style> table { margin: 0 0 1.5em; 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In a normal developing brain, connections between the neurons—synapses—experience a process of maturation and regression in which unnecessary synapses are removed and functional ones enhanced. This process is deemed to be important in the formation of functional neural circuits. However, in FXS, because there is no FMRP, the cells cannot go through the process of synaptic pruning, and there is an excess of parasynaptic boutons or immature synapses. This overproduction is the formation of disconnection, that is, the formation of an abnormal neural connection that hinders the communication between neurons, which gives rise to cognitive deficits and behavioral problems linked to the syndrome.</span></p> <p><span style="font-weight: 400;">These synaptic abnormalities have been well elucidated in studies involving mouse models of FXS. For instance, the absence of the FMR1 gene in Fragile X knockout mice shows increased density of the dendritic spines, which are the tiny extensions of the cell body of neurons where synapses are established, than normal genetic mice. These spines are long and thin, the same as immature synapses that are inefficient in signal transfer. It is suggested that this morphological abnormality plays a role in the learning and memory in FXS.</span></p> <p><span style="font-weight: 400;">Furthermore, it is documented that FMRP is also involved in the regulation of several proteins that directly underlie the genetic code for synaptic plasticity, such as proteins that belong to the metabotropic glutamate receptor 5 (mGluR5) pathway. The abnormality of this pathway has been linked to FXS, and it has been demonstrated that overactivation of this pathway is especially detrimental. Under normal circumstances, activation of the mGluR5 results in the production of proteins, which are essential for the process of consolidation of synapses. However, when there is a lack of FMRP, this process becomes uncontrolled and results in oversynthesis of proteins and disorder of synapse.</span></p> <h3><b>Neurodevelopmental Trajectories in Fragile X Syndrome</b><b><br /> </b></h3> <p><span style="font-weight: 400;">Neurodevelopment in FXS differs from healthy neurodevelopment in several ways and is at least ten times slower as described above. Cognitive development in this group of patients appears to be characterized by age equivalence for the first few years with modest improvement near the age of two years, a decline in abilities in the subsequent two or three years, and then stability or even deterioration during the next several years of development. This developmental trajectory is associated with synaptogenesis progression and synaptic abnormalities in the absence of FMRP.</span></p> <p><span style="font-weight: 400;">Children with FXS may have quite normal motor and adaptive development during the early stages of development. This is by far true, but as the subjects grow older, a lot of time is lagged, particularly in the areas of learning and social skills. These delays are usually brought on by a state of stagnation in the child’s mental development in which the mental age remains stagnant and does not advance with the chronological age. This stagnation in cognitive development is a result of the compromise of synaptic processes in the brain, as highlighted above in discussions.</span></p> <p><span style="font-weight: 400;">It is, however, important to note that the rate of decline in cognition seems to differ in people with FXS differently, with some even showing faster decline rates than the rest. This variability is believed to depend upon several factors: the level of methylation present in the FMR1 gene, mosaicism, in which some cells in the body produce FMRP while others do not, and the quality of educational and therapeutic programs offered to the affected child.</span></p> <h3><b>Behavioral and Psychiatric Manifestations</b><b><br /> </b></h3> <p><span style="font-weight: 400;">Due to alterations in neurotransmitters—and particularly to the neurobiological changes observed in FXS—patients experience various behavioral and psychiatric symptoms. It often observed social isolation, giant avoidance, and problems in general interaction with peers, noted signs of social anxiety. Besides, there is a high rate of development of autism features in children, such as hand flapping and line following. These symptoms are likely to be attributed to the disruption of the neural networks through synaptic overproduction coupled with the inability to prune them out as is supposed to happen with the maturing brain.</span></p> <p><span style="font-weight: 400;">Deficit of attention and hyperactivity are also observed in FXS, with more frequencies in the boys. These symptoms are thought to originate from impaired signal processing within the neural networks, which are involved with attention and executive control of behavior. In addition, such patients suffer from mood disorders like anxiety and depression in rather high proportions given the social impact of the disorder.</span></p> <p><span style="font-weight: 400;">Findings on sex differences in affected individuals also present one of the peculiarities of FXS. It is established that the manifestation of the disease is different in boys and girls. Men inherited one X chromosome, and therefore, the effects of the FMR1 mutation are more conspicuous in the male gender. Males, as for their turn, have one X and one Y chromosome; however, some of the cells may have normal FMR1 gene copy, which is why they present a less severe clinical picture. This phenomenon known as X inactivation leads to a vast degree of variation in women with FXS ranging from slightly affected learning disability to severe cognitive disability.</span></p> <p></div></div> <div style="background: #f7f7f7;border: 1px solid rgba(0, 0, 0, 0.07);"> <div style="padding: 30px;"><div class="Adblock-main"> <div class="Adblock-head"> <h2>Recent Publications on <b>“<a href="https://mutation.blog/recent-publications/index/fragile x syndrome" target="_blank" rel="noopener" title="fragile x syndrome - yearwise publication list">fragile x syndrome</a>”</b></h2> </div> </div> <div class="pb-main"><div class="article-scroll"><div id="results_recent" class="results"></div></div><div class="keywordsdiv" style="margin: 0px 15px;margin-top:20px;"> <div style="text-align:center;"><b>Find publications on relevant topics</b> </div> <span class="gp-icon icon-tags"><svg viewBox="0 0 512 512" aria-hidden="true" xmlns="http://www.w3.org/2000/svg" width="1em" height="1em"><path d="M20 39.5c-8.836 0-16 7.163-16 16v176c0 4.243 1.686 8.313 4.687 11.314l224 224c6.248 6.248 16.378 6.248 22.626 0l176-176c6.244-6.244 6.25-16.364.013-22.615l-223.5-224A15.999 15.999 0 00196.5 39.5H20zm56 96c0-13.255 10.745-24 24-24s24 10.745 24 24-10.745 24-24 24-24-10.745-24-24z"></path><path d="M259.515 43.015c4.686-4.687 12.284-4.687 16.97 0l228 228c4.686 4.686 4.686 12.284 0 16.97l-180 180c-4.686 4.687-12.284 4.687-16.97 0-4.686-4.686-4.686-12.284 0-16.97L479.029 279.5 259.515 59.985c-4.686-4.686-4.686-12.284 0-16.97z"></path></svg></span> <span id="keyword-papers"></span> </div></div></div><div class="inside-article"> <style> .pb-main{ border: solid 1px #ccc; 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I. Genetic epidemiology and founder effect outline.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38164622", "publishedDate": "2024" }, { "title": "A novel combination treatment for fragile X syndrome predicted using computational methods.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38226317", "publishedDate": "2024" }, { "title": "Cannabinoid treatment for the symptoms of autism spectrum disorder.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38226593", "publishedDate": "2024" }, { "title": "EF1\u03b1-associated protein complexes affect dendritic spine plasticity by regulating microglial phagocytosis in Fmr1 knock-out mice.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38212373", "publishedDate": "2024" }, { "title": "Research progress of the inferior Colliculus: From Neuron, neural circuit to auditory disease.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38244755", "publishedDate": "2024" }, { "title": "Developmental Associations between Cognition and Adaptive Behavior in Intellectual and Developmental Disability.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38260292", "publishedDate": "2024" }, { "title": "Characterising the social interaction style of autism in young adult males with fragile X syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38258970", "publishedDate": "2024" } ]; var keywordsArray = ["Fragile X syndrome","FMR1 gene","FMRP protein","synaptic change","neurodevelopment","cognitive decline","behavior alteration","genetic mutation","mGluR5 signal transduction","gene treatment"]; displayResults_recent(recent_papers); displayKeywordPapers(keywordsArray); // function stripslashes(str) { // if (typeof str === 'string') { // return str.replace(/\/g, ''); // } // } </script></p> <h3><b>The Impact of Environmental and Genetic Factors</b><b><br /> </b></h3> <p><span style="font-weight: 400;">It is, therefore, not only the single gene mutation but also the interaction of environmental and genotypic variables that facilitate or aggravate the condition typical of the FXS. Research has also felt that the condition of the home environment, parents’ emotional state, and the utility of educational and educational approaches in changing the behavior of children with FXS.</span></p> <p><span style="font-weight: 400;">For example, where boys with FXS have access to quality education and therapy, they are likely to have fewer behavior difficulties than those without these opportunities. In the same way, home environment factors were associated with reduced severity of autistic behaviors; therefore, home and early interventional factors aid in reducing FXS effects.</span></p> <p><span style="font-weight: 400;">Another cause of this variability of symptoms is individual genetic predispositions. The amount of FMRP that can be altered by the extent of FMR1 methylation has been linked to the nature and extent of the cognitive and behavioral symptoms. People with high expression of FMRP are generally found to have minimal impact of FXS and few physical characteristics like macroorchidism and elongated facial structure.</span></p> <h3><b>Current and Future Directions in FXS Research</b><b><br /> </b></h3> <p><span style="font-weight: 400;">Knowledge of the neurobiology of FXS has led to new directions in concern with investigation and treatment. A possible direction for these concepts’ further investigation is related to the employment of therapies intervening in the mGluR5 pathway. Because overstimulation of this pathway is implicated in the synaptic changes associated with FXS, drugs that block mGluR5 are currently under consideration. Initial investigations in animal models have demonstrated that the given drugs may limit the increased protein synthesis at synapses as well as enhance the abolished or impaired cognitive and behavioral signs.</span></p> <p><span style="font-weight: 400;">Gene therapy is also under study as another category. The idea of gene therapy for FXS is to enhance the normal operation of the FMR1 gene by providing an effective allele or by reversing the process of genomic imprinting in impacted cells. Although the use of this approach is still preliminary, this approach has the potential to solve the root cause of FXS in the long run.</span></p> <p><span style="font-weight: 400;">Moreover, current studies are aimed at the detection of biomarkers, which could help to define the degree of FXS and treatment outcomes. As such, such biomarkers would help develop individualized treatment regimens and track early treatment outcomes.</span></p> <h3><b>Conclusion</b><b><br /> </b></h3> <p><span style="font-weight: 400;">Fragile X syndrome is a multiple disability that results from a mutation in the gene FMR1 and the interaction of reduced FMRP protein. Lack of FMRP affects the communication of synaptic connections and neural circuitry, hence contributing to the features of FXS that include cognitive impairment, behavioral abnormalities, and physical features. Despite many advances in understanding the neural substrates of the FXS, new facts are still revealed, which may pave the way for better treatment and, eventually, for the cure of this difficult disorder.</span></p> <p></p> <h3><b>References</b></h3> <ol> <li>Churchill, J.D., Grossman, A.W., Irwin, S.A., Galvez, R., Klintsova, A.Y., Weiler, I.J. and Greenough, W.T., 2002. <a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/dev.10036">A converging‐methods approach to fragile X syndrome.</a> <i>Developmental Psychobiology: The Journal of the International Society for Developmental Psychobiology</i>, <i>40</i>(3), pp.323-338.</li> <li>Hessl, D., Dyer-Friedman, J., Glaser, B., Wisbeck, J., Barajas, R.G., Taylor, A. and Reiss, A.L., 2001. <a href="https://publications.aap.org/pediatrics/article-abstract/108/5/e88/63681/The-Influence-of-Environmental-and-Genetic-Factors">The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome.</a> <i>Pediatrics</i>, <i>108</i>(5), pp.e88-e88.</li> <li>Hagerman, R.J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B. and Hagerman, P.J., 2001. <a href="https://www.neurology.org/doi/abs/10.1212/wnl.57.1.127">Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.</a> <i>Neurology</i>, <i>57</i>(1), pp.127-130.</li> <li>Bennetto, L., Taylor, A.K., Pennington, B.F., Porter, D. and Hagerman, R.J., 2001. <a href="https://psycnet.apa.org/record/2001-00283-012">Profile of cognitive functioning in women with the fragile X mutation.</a> <i>Neuropsychology</i>, <i>15</i>(2), p.290.</li> <li>Sherman, S.L., 2000. <a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/1096-8628(200023)97:3%3C189::AID-AJMG1036%3E3.0.CO;2-J">Premature ovarian failure in the fragile X syndrome.</a> <i>American journal of medical genetics</i>, <i>97</i>(3), pp.189-194.</li> <li>Lachiewicz, A.M., Dawson, D.V. and Spiridigliozzi, G.A., 2000. <a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/(SICI)1096-8628(20000605)92:4%3C229::AID-AJMG1%3E3.0.CO;2-K">Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.</a> <i>American journal of medical genetics</i>, <i>92</i>(4), pp.229-236.</li> <li>Musumeci, S.A., Hagerman, R.J., Ferri, R., Bosco, P., Bernardina, B.D., Tassinari, C.A., De Sarro, G.B. and Elia, M., 1999. <a href="https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1528-1157.1999.tb00824.x">Epilepsy and EEG findings in males with fragile X syndrome.</a> <i>Epilepsia</i>, <i>40</i>(8), pp.1092-1099.</li> </ol> <p></div></div> <div style="background: #f7f7f7;border: 1px solid rgba(0, 0, 0, 0.07);"> <div style="padding: 30px;"><div class="Adblock-main"> <div class="Adblock-head"> <h2>Top Experts on “<b style="color:#000;font-size:22px;">fragile x syndrome</b>“</h2> </div> </div><div class="author-main"><div id="results_author"></div><div style="text-align: center;"><a class="register-button" href="https://mutation.blog/expert-search" target="_blank" rel="noopener">Find experts on any field</a></div></div><div class="inside-article" style="background: none;border: none;box-shadow: none;margin-top: -70px;"> <style> .author-block { padding: 15px; 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", "email": "vfaunde@emory.edu", "slug_tail": "v-faundez" } }; //console.log(authors_data); displayResults_author(authors_data); var keywordsArray = ["Fragile X syndrome","FMR1 gene","FMRP protein","synaptic change","neurodevelopment","cognitive decline","behavior alteration","genetic mutation","mGluR5 signal transduction","gene treatment"]; displayKeywordAuthors(keywordsArray); </script></p> <p> </p> </div> <footer class="entry-meta" aria-label="Entry meta"> <span class="cat-links"><span class="gp-icon icon-categories"><svg viewBox="0 0 512 512" aria-hidden="true" xmlns="http://www.w3.org/2000/svg" width="1em" height="1em"><path d="M0 112c0-26.51 21.49-48 48-48h110.014a48 48 0 0143.592 27.907l12.349 26.791A16 16 0 00228.486 128H464c26.51 0 48 21.49 48 48v224c0 26.51-21.49 48-48 48H48c-26.51 0-48-21.49-48-48V112z" /></svg></span><span class="screen-reader-text">Categories </span><a href="https://mutation.blog/archive/category/fragile-x-syndrome/" rel="category tag">Fragile X 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