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Smith-Lemli-Opitz Syndrome: From Biochemical Mechanisms to Clinical Implications – Public Health
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</div> <header class="entry-header"> <h1 class="entry-title" itemprop="headline">Smith-Lemli-Opitz Syndrome: From Biochemical Mechanisms to Clinical Implications</h1> <div class="entry-meta"> <span class="posted-on"><time class="entry-date published" datetime="2024-11-08T14:50:22+05:30" itemprop="datePublished">November 8, 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://public-health.blog/archive/author/public-health/" title="View all posts by public-health" rel="author" itemprop="url"><span class="author-name" itemprop="name">public-health</span></a></span></span> </div> </header> <div class="entry-content" itemprop="text"> <p><span style="font-weight: 400;">Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder that presents significant malformations and learning disability and features both physical and behavioral abnormalities in the affected humans. DHCR7 is an autosomal recessive condition and is identified with inactivity in the enzyme 7-dehydrocholesterol reductase important for cholesterol synthesis. This causes abnormality in the biosynthesis of cholesterol and its derivatives and results in the buildup of 7-dehydrocholesterol (7-DHC) and a possible deficiency in cholesterol in numerous biological processes. Knowledge of SLOS biochemistry is valuable for the unraveling of the disease’s mechanisms and fundamental knowledge of SLOS pathophysiology and treatment is being gained as researchers persist in their work. This blog presents information on the metabolic disturbance that occurs as a result of SLOS, the disease symptoms, and the advances in treatment options.</span></p> <h4><b>Biochemical Mechanisms of SLOS</b></h4> <h3><b>Cholesterol Biosynthesis Pathway</b></h3> <p><span style="font-weight: 400;">Cholesterol is an actual element of cell membranes that takes part in the synthesis of steroids, hormones, and bile salts. The synthesis of cholesterol occurs in many steps through a sequence of enzymes known as biosynthesis. In SLOS, deficiencies in the DHCR7 gene lead to the failure of the final phase of cholesterol buildup, particularly the 7-DHC to cholesterol transition. This disruption leads to a buildup of 7-DHC, which is widely recognized for its ability to oxidize, as well as a decrease in cholesterol.</span></p> <p><span style="font-weight: 400;">The occurrence of 7-DHC is particularly problematic because increases in this substrate’s concentration cause the production of toxic oxysterols after undergoing oxidation stress. These oxysterols can affect many cellular processes and thus play a role in the neurological and developmental abnormalities of SLOS.</span></p> <h3><b>Effects on Organism’s Cellular and Molecular Levels</b></h3> <p><span style="font-weight: 400;">The deficiency of cholesterol and the accumulation of 7-DHC influence several cellular processes. Problems associated with cholesterol include that cholesterol is an essential nutrient required for cell membrane structure and stability, and deficiency of cholesterol will cause serious disruptive problems in basic cellular activities. In addition, cholesterol plays the role of myelination of neurons; in other words, it creates a sheath under which it is easier, faster, and with a lesser energy loss to transmit a signal. The poor cholesterol synthesis that is common to SLOS patients makes it possible for them to develop severe neurological disorders.</span></p> <p><span style="font-weight: 400;">Furthermore, 7-DHC and its oxysterols, which accumulate, can alter a cell’s usual signaling processes. For example, 7-DHC-derived oxysterols have been found to suppress the hedgehog signaling path that is very vital in embryonic development as well as stem cell differentiation. This inhibition might cause congenital anomalies and delays in development.</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://public-health.blog/publication-trends/index/smith lemli opitz syndrome" target="_blank" title="smith lemli opitz syndrome - yearwise publication trends">smith lemli opitz 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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if (!statistics || Object.keys(statistics).length === 0) { resultsContainer.innerHTML = '<p>No data found.</p>'; return; } var tableHTML = `<div class='pub-scroll'> <table class='tablediv' border='1' cellspacing='0' cellpadding='0'> <tr> <th>Year</th> <th>Publication Count</th> </tr>`; Object.entries(statistics).sort(([yearA], [yearB]) => yearB - yearA).forEach(([year, count]) => { const displayCount = count === 0 ? 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Some of the obvious characteristics are growth delays, microcephaly, a broad nasal bridge, a small chin, syndactyly, and polydactyly. Abnormalities to the genitalia may entail hypospadias in males and ambiguous genitalia in females.</span></p> <h3><b>Neurological and Behavioral Symptoms</b></h3> <p><span style="font-weight: 400;">As previously mentioned, neurological abnormalities are characteristic of SLOS. It is common to see patients with this disease with intellectual disability, developmental delay, and behavioral disorders. These can, for example, be hyperactivity, aggressiveness, and self-mutilation, as well as indications of autism. It is also evident that the extent of neurological involvement ranges from severe, where some of these patients have severe intellectual disability, to moderate, where some of these patients have moderate intellectual disability.</span></p> <p><span style="font-weight: 400;">In SLOS patients, many studies using brain imaging show structural changes in the cerebral surface, such as in the corpus callosum, cerebral and cerebellar atrophy, midline defects, and so on. The mentioned structural changes can be associated with inadequate cholesterol metabolism influencing the development of the brain.</span></p> <h3><b>Metabolic and Endocrine Dysfunctions</b></h3> <p><span style="font-weight: 400;">Aside from neurological and physical changes, the metabolic effects due to disturbed cholesterol synthesis are numerous. Cholesterol is a precursor for the steroid hormone, and therefore, if cholesterol is in short supply, hormone synthesis will be affected. For example, some SLOS patients are diagnosed with adrenal insufficiency, which, of course, needs hormone replacement therapy.</span></p> <h4><b>Diagnostic Approaches</b></h4> <h3><b>Biochemical Testing</b></h3> <p><span style="font-weight: 400;">The diagnosis of SLOS, like other L/km disorders, mainly relies on biochemical analysis, where blood samples of the patient are analyzed to detect the level of 7-DHC and cholesterol. High levels of 7 DHC and low levels of cholesterol are observed in the condition. Mass spectrometry is considered the best technique for the identification and measurement of such sterols.</span></p> <h3><b>Genetic Testing</b></h3> <p><span style="font-weight: 400;">Companion diagnosis is done through molecular tests to detect genetic changes in the DHCR7 gene. In total, 117 different mutations have been reported, and they are categorized by the effect that they have on the enzyme function of the protein. Apart from confirming the diagnosis, genetic testing also helps in counseling the affected families on the next course of action.</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://public-health.blog/recent-publications/index/smith lemli opitz syndrome" target="_blank" rel="noopener" title="smith lemli opitz syndrome - yearwise publication list">smith lemli opitz 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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publicationBlock.innerHTML = publicationHTML; resultsContainer.appendChild(publicationBlock); }); } function displayKeywordPapers(keywords) { var resultsContainer = document.getElementById('keyword-papers'); resultsContainer.innerHTML = ''; if (!keywords || keywords.length === 0) { resultsContainer.innerHTML = '<p>No data found.</p>'; return; } var keywordHTML = ''; keywords.forEach((key, index) => { let key_replace = key.replace(/ /g, '-'); key_replace = key_replace.toLowerCase(); keywordHTML += `<a href="https://public-health.blog/recent-publications/index/${key_replace}" target="_blank" title="${key} - publication list">${key}</a>`; if (index < keywords.length - 1) { keywordHTML += ', '; } }); resultsContainer.innerHTML = keywordHTML; } // Call the function with the PHP data var recent_papers = [ { "title": "Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38449995", "publishedDate": "2024" }, { "title": "Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/39271956", "publishedDate": "2024" }, { "title": "Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the Gene in a 73-Year-Old Woman: Report of the Oldest Patient.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/39119449", "publishedDate": "2024" }, { "title": "Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38236648", "publishedDate": "2024" }, { "title": "Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic mutations.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38581293", "publishedDate": "2024" }, { "title": "DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38626530", "publishedDate": "2024" }, { "title": "Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/39244853", "publishedDate": "2024" }, { "title": "Cholesterol regulates insulin-induced mTORC1 signaling.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/37921368", "publishedDate": "2023" }, { "title": "Keeping you on your toes: Smith-Lemli-Opitz Syndrome is\u00a0an easily missed cause of developmental delays.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/36814711", "publishedDate": "2023" }, { "title": "Research Trends of Vitamin D Metabolism Gene Polymorphisms Based on a Bibliometric Investigation.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/36672957", "publishedDate": "2023" }, { "title": "Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/37659595", "publishedDate": "2023" }, { "title": "Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38045361", "publishedDate": "2023" }, { "title": "MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/37873113", "publishedDate": "2023" }, { "title": "Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/36714259", "publishedDate": "2023" }, { "title": "Cholesterol metabolism pathway in autism spectrum disorder: From animal models to clinical observations.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/36717034", "publishedDate": "2023" }, { "title": "Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/38077958", "publishedDate": "2023" }, { "title": "Effect of maternal polycystic ovary syndrome (PCOS) on screening of aneuploidy in the first and second trimesters.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/37605237", "publishedDate": "2023" }, { "title": "How to Manage Low Estriol Levels in Pregnancies, One Center Experience.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/35306787", "publishedDate": "2022" }, { "title": "A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/34962712", "publishedDate": "2022" }, { "title": "7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome.", "url": "https:\/\/pubmed.ncbi.nlm.nih.gov\/36111785", "publishedDate": "2022" } ]; var keywordsArray = ["Smith-Lemli-Opitz Syndrome","SLOS","7-dehydrocholesterol","cholesterol biosynthesis","DHCR7","oxysterols","genetic disorder","neurological deficits","dietary cholesterol supplementation","antioxidant therapy","gene therapy"]; displayResults_recent(recent_papers); displayKeywordPapers(keywordsArray); // function stripslashes(str) { // if (typeof str === 'string') { // return str.replace(/\/g, ''); // } // } </script></p> <h4><b>Therapeutic Interventions</b></h4> <h3><b>Dietary Cholesterol Supplementation</b></h3> <p><span style="font-weight: 400;">Due to the lack of cholesterol, the diet has always been used to supplement SLOS treatment, though not as a major solution. The results of cholesterol supplementation have revealed increased growth, decreased biochemical imbalance, and positive changes in some children’s behavioral patterns. However, the effectiveness of this intervention is somewhat therapeutic and does not fully eliminate all the clinical manifestations of the disorder.</span></p> <h3><b>Antioxidant Therapy</b></h3> <p><span style="font-weight: 400;">Considering that 7-DHC undergoes a process of oxidation rather easily, antioxidant therapy has been proposed as a treatment for oxidative stress and its effects on the body. There are clinical trials in which antioxidants and vitamin E have been administered, and some decreases in oxidative markers have been observed.</span></p> <h3><b>Pharmacological Approaches</b></h3> <p><span style="font-weight: 400;">Effort continues to be made to determine other drugs that could affect the biosynthesis of cholesterol and decrease 7-DHC levels. One of them is statin, which is described as an HMG-CoA reductase inhibitor that is the key enzyme in the synthesis of cholesterol. Thus, by lowering the overall flux through the cholesterol pathway, statins could help to reduce the deposits of 7-DHC. Nevertheless, statins’ use to manage SLOS is still investigational, and additional studies are required to define their risks and benefits.</span></p> <h3><b>Future Directions and Research</b></h3> <p><span style="font-weight: 400;">Over the past decades, there have been improvements in the comprehensiveness of SLOS; however, there are still many questions left unanswered. Future research is still underway to describe the specific process through which 7-DHC and its oxysterols further contribute to the disease symptoms observed in SLOS. Also, to precisely consider the benefits and adverse effects of today’s promising therapeutic approaches, there is an urgency to carry out large-scale clinical trials.</span></p> <p><span style="font-weight: 400;">There is hope that with future development in gene therapy, conditions such as SLOS can be managed. Thus, while gene therapy for SLOS is still only in the experimental phase, it holds the promise of actually curing the disease by rectifying the genetic mutation that leads to an impairment of cholesterol synthesis.</span></p> <h4><b>Conclusion</b></h4> <p><span style="font-weight: 400;">Smith-Lemli-Opitz Syndrome is a multifaceted disorder that impacts virtually all areas of growth and development. Much about the disease has been discovered about the biochemical processes that are involved, making diagnosis and treatment possible. However, additional research is needed to completely understand and describe the condition of SLOS and to enhance the opportunities of its therapy. With this increased understanding, there is hope for the condition to improve in the future and for patient’s well-being to be enhanced once they are diagnosed with this difficult disease.</span></p> <p></p> <h4><strong>References</strong></h4> <ol> <li>Tallman, K.A., Allen, L.B., Klingelsmith, K.B., Anderson, A., Genaro-Mattos, T.C., Mirnics, K., Porter, N.A. and Korade, Z., 2021. <a href="https://pubs.acs.org/doi/abs/10.1021/acschemneuro.0c00765">Prescription medications alter neuronal and glial cholesterol synthesis.</a> <i>ACS chemical neuroscience</i>, <i>12</i>(4), pp.735-745.</li> <li>Sharpe, L.J., Coates, H.W. and Brown, A.J., 2020. <a href="https://www.jbc.org/article/S0021-9258(17)50639-0/fulltext">Post-translational control of the long and winding road to cholesterol.</a> <i>Journal of Biological Chemistry</i>, <i>295</i>(51), pp.17549-17559.</li> <li>Wang, Y., Yutuc, E. and Griffiths, W.J., 2021. <a href="https://bpspubs.onlinelibrary.wiley.com/doi/full/10.1111/bph.15191">Neuro‐oxysterols and neuro‐sterols as ligands to nuclear receptors, GPCRs, ligand‐gated ion channels and other protein receptors.</a> <i>British Journal of Pharmacology</i>, <i>178</i>(16), pp.3176-3193.</li> <li>Brown, A.J., Sharpe, L.J. and Rogers, M.J., 2021. <a href="https://bpspubs.onlinelibrary.wiley.com/doi/full/10.1111/bph.15073">Oxysterols: From physiological tuners to pharmacological opportunities.</a> <i>British Journal of Pharmacology</i>, <i>178</i>(16), pp.3089-3103.</li> <li>Wages, P.A., Joshi, P., Tallman, K.A., Kim, H.Y.H., Bowman, A.B. and Porter, N.A., 2020. <a href="https://ehp.niehs.nih.gov/doi/full/10.1289/EHP5053">Screening ToxCast™ for Chemicals That Affect Cholesterol Biosynthesis: Studies in Cell Culture and Human Induced Pluripotent Stem Cell–Derived Neuroprogenitors</a>. <i>Environmental Health Perspectives</i>, <i>128</i>(1), p.017014.</li> <li>Genaro-Mattos, T.C., Anderson, A., Allen, L.B., Korade, Z. and Mirnics, K., 2019. <a href="https://pubs.acs.org/doi/abs/10.1021/acschemneuro.9b00248">Cholesterol biosynthesis and uptake in developing neurons.</a> <i>ACS chemical neuroscience</i>, <i>10</i>(8), pp.3671-3681.</li> <li>Wang, X., Hou, Y., Hou, Z., Xiong, W. and Huang, G., 2019. <a href="https://pubs.acs.org/doi/abs/10.1021/acs.analchem.8b04395">Mass spectrometry imaging of brain cholesterol and metabolites with trifluoroacetic acid-enhanced desorption electrospray ionization.</a> <i>Analytical chemistry</i>, <i>91</i>(4), pp.2719-2726.</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;">smith lemli opitz 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://public-health.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": "liyu_17@stu.xjtu.edu.cn", "slug_tail": "liyu-zhang" } }; //console.log(authors_data); displayResults_author(authors_data); var keywordsArray = ["Smith-Lemli-Opitz Syndrome","SLOS","7-dehydrocholesterol","cholesterol biosynthesis","DHCR7","oxysterols","genetic disorder","neurological deficits","dietary cholesterol supplementation","antioxidant therapy","gene therapy"]; 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 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