{"id":107320,"date":"2024-09-26T22:52:21","date_gmt":"2024-09-26T15:52:21","guid":{"rendered":"https:\/\/hotvideos24.online\/?p=107320"},"modified":"2024-09-26T22:52:21","modified_gmt":"2024-09-26T15:52:21","slug":"newly-found-genetic-mutation-linked-to-early-onset-parkinsons","status":"publish","type":"post","link":"https:\/\/hotvideos24.online\/?p=107320","title":{"rendered":"Newly Found Genetic Mutation Linked to Early-Onset Parkinson&#8217;s"},"content":{"rendered":"<p> <script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js?client=ca-pub-3711241968723425\"\r\n     crossorigin=\"anonymous\"><\/script>\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-format=\"fluid\"\r\n     data-ad-layout-key=\"-fb+5w+4e-db+86\"\r\n     data-ad-client=\"ca-pub-3711241968723425\"\r\n     data-ad-slot=\"7910942971\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script><br \/>\n<\/p>\n<div>\n<p><strong>Summary: <\/strong>A new study led by scientists has uncovered a mutation in the SGIP1 gene that may cause early-onset Parkinson\u2019s. The discovery, based on a family with a history of the disease, sheds light on how this mutation disrupts brain cell communication.<\/p>\n<p>Researchers found that the mutation affects synapses, leading to movement difficulties and brain cell degeneration. This breakthrough opens potential pathways for diagnosing and treating Parkinsonism.<\/p>\n<p><strong>Key Facts<\/strong>:<\/p>\n<ul class=\"wp-block-list\">\n<li>SGIP1 mutation impacts synapse function, leading to neurodegeneration.<\/li>\n<li>Fruit fly models without SGIP1 show symptoms similar to Parkinsonism.<\/li>\n<li>Findings may guide new treatments for early-onset Parkinsonism.<\/li>\n<\/ul>\n<p><strong>Source: <\/strong>VIB<\/p>\n<p><strong>A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The mutation, located in a gene called SGIP1, was discovered in an Arab family with a history of Parkinson\u2019s symptoms that began at a young age. <\/strong><\/p>\n<p>The study reveals that this mutation affects how brain cells communicate, providing new insights into the disease\u2019s development and potential treatment strategies.<\/p>\n<h2 class=\"wp-block-heading\"><strong>A genetic clue to Parkinsonism<\/strong><\/h2>\n<p>Parkinsonism is a group of neurological disorders that share similar symptoms, including motor dysfunction and cognitive decline. It includes Parkinson\u2019s disease but also encompasses other disorders that mimic these symptoms.<\/p>\n<figure class=\"wp-block-image size-full\"><picture fetchpriority=\"high\" decoding=\"async\" class=\"wp-image-104715\"><source type=\"image\/webp\" srcset=\"https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience.jpg.webp 1200w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-300x200.jpg.webp 300w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-770x513.jpg.webp 770w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-1155x770.jpg.webp 1155w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-370x247.jpg.webp 370w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-293x195.jpg.webp 293w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-150x100.jpg.webp 150w\" sizes=\"(max-width: 1200px) 100vw, 1200px\"\/><img fetchpriority=\"high\" decoding=\"async\" width=\"1200\" height=\"800\" src=\"https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience.jpg\" alt=\"This shows neurons.\" srcset=\"https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience.jpg 1200w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-300x200.jpg 300w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-770x513.jpg 770w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-1155x770.jpg 1155w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-370x247.jpg 370w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-293x195.jpg 293w, https:\/\/neurosciencenews.com\/files\/2024\/09\/genetics-early-onset-parkinsoins-neuroscience-150x100.jpg 150w\" sizes=\"(max-width: 1200px) 100vw, 1200px\"\/> <\/picture><figcaption class=\"wp-element-caption\">This disruption suggests that the SGIP1 mutation interferes with the brain\u2019s ability to maintain healthy synapses, which may play a significant role in the development of Parkinsonism. Credit: Neuroscience News<\/figcaption><\/figure>\n<p>The discovery began when an Omani family, whose two daughters developed severe Parkinsonism at a young age, sought answers from their neurologist Prof. Ramachandiran Nandhagopal and geneticist Dr. Patrick Scott at the Sultan Qaboos University Hospital.<\/p>\n<p>This led to the identification of a mutation in the SGIP1 gene, a gene not previously linked to Parkinsonism. Understanding how this mutation contributes to the disease required a closer look at its impact on brain function, prompting a collaboration with Prof. Patrik Verstreken\u2019s team at the\u00a0VIB-KU Leuven Center for Brain &amp; Disease Research, who had previously conducted successful research on the topic.<\/p>\n<h2 class=\"wp-block-heading\"><strong>Studying the mutation\u2019s effects<\/strong><\/h2>\n<p>To investigate the mutation\u2019s role, the researchers created a model using fruit flies that lacked the SGIP1 gene. These flies exhibited symptoms similar to those seen in Parkinsonism, including movement difficulties and brain cell degeneration. Closer examination revealed that the mutation caused defects in synapses, the structures that allow brain cells to communicate.<\/p>\n<p>Further analysis showed that key structures in the synapses, responsible for recycling and breaking down proteins, were missing. This disruption suggests that the SGIP1 mutation interferes with the brain\u2019s ability to maintain healthy synapses, which may play a significant role in the development of Parkinsonism.<\/p>\n<p>\u201cThis work reinforces the idea that maintaining synapse health is essential for neuron survival throughout life,\u201d says\u00a0Dr. Marianna Decet, first author of the study.<\/p>\n<p>\u201cOur findings highlight the importance of synaptic proteostasis \u2013 the balance and quality control of proteins in synapses \u2013 in protecting against neurological diseases like Parkinsonism.\u201d<\/p>\n<h2 class=\"wp-block-heading\"><strong>Looking ahead<\/strong><\/h2>\n<p>Sabine Kuenen, research partner and co-author of the study, emphasizes the significance of the discovery: \u201cFinding this mutation in the SGIP1 gene is exciting because it provides a fresh perspective on how these neurological disorders develop. It\u2019s a reminder that even small changes in our genetic code can have a profound impact on brain function.\u201d<\/p>\n<p>\u201cThis is the first time we\u2019ve seen SGIP1 involved in Parkinsonism, and it gives us a new direction for research,\u201d says\u00a0Prof. Patrik Verstreken.<\/p>\n<p>\u201cFuture studies will be crucial to confirm these findings in other cases and to understand the broader implications of the SGIP1 mutation. Our hope is that by understanding how this mutation disrupts brain cell communication, we can aid the development of new strategies for diagnosing, preventing, and treating Parkinsonism in the future.\u201d<\/p>\n<p><strong>Funding<\/strong><\/p>\n<p>The research (team) was supported by the Research Foundation Flanders (FWO), the European Research Council (ERC), the Chan Zuckerberg Initiative, a Methusalem grant of the Flemish Government, Opening the Future fund, EMBO, and a Research Council of Oman.<\/p>\n<h2 class=\"wp-block-heading\">About this genetics and Parkinson\u2019s disease research news<\/h2>\n<p class=\"has-background\" style=\"background-color:#ffffe8\"><strong>Author: <\/strong><a href=\"http:\/\/neurosciencenews.com\/cdn-cgi\/l\/email-protection#e78e89838e868d868982c9908e9482a7918e85c98582\" target=\"_blank\" rel=\"noreferrer noopener\">India Jane Wise<\/a><br \/><strong>Source: <\/strong><a href=\"https:\/\/vib.be\" target=\"_blank\" rel=\"noreferrer noopener\">VIB<\/a><br \/><strong>Contact: <\/strong>India Jane Wise \u2013 VIB<br \/><strong>Image: <\/strong>The image is credited to Neuroscience News<\/p>\n<p class=\"has-background\" style=\"background-color:#ffffe8\"><strong>Original Research: <\/strong>The findings will appear in <em>Cell Reports Medicine<\/em><\/p>\n<p> <!-- Form created by Optin Forms plugin by WPKube: create beautiful optin forms with ease! --> <!-- https:\/\/wpkube.com\/ --><!--optinforms-form5-container--> <!-- \/ Optin Forms --> <\/div>\n<p><script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js?client=ca-pub-3711241968723425\"\r\n     crossorigin=\"anonymous\"><\/script>\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-format=\"fluid\"\r\n     data-ad-layout-key=\"-fb+5w+4e-db+86\"\r\n     data-ad-client=\"ca-pub-3711241968723425\"\r\n     data-ad-slot=\"7910942971\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script><br \/>\n<br \/><div data-type=\"_mgwidget\" data-widget-id=\"1660802\">\r\n<\/div>\r\n<script>(function(w,q){w[q]=w[q]||[];w[q].push([\"_mgc.load\"])})(window,\"_mgq\");\r\n<\/script>\r\n<br \/>\n<br \/><a href=\"https:\/\/neurosciencenews.com\/genetics-early-onset-parkinsons-27689\/\">Source link <\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Summary: A new study led by scientists has uncovered a mutation in the SGIP1 gene that may cause early-onset Parkinson\u2019s. The discovery, based on a family with a history of &hellip; <a href=\"https:\/\/hotvideos24.online\/?p=107320\" class=\"more-link\">Read More<\/a><\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[],"class_list":["post-107320","post","type-post","status-publish","format-standard","hentry","category-health","entry"],"_links":{"self":[{"href":"https:\/\/hotvideos24.online\/index.php?rest_route=\/wp\/v2\/posts\/107320","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/hotvideos24.online\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/hotvideos24.online\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/hotvideos24.online\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/hotvideos24.online\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=107320"}],"version-history":[{"count":0,"href":"https:\/\/hotvideos24.online\/index.php?rest_route=\/wp\/v2\/posts\/107320\/revisions"}],"wp:attachment":[{"href":"https:\/\/hotvideos24.online\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=107320"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/hotvideos24.online\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=107320"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/hotvideos24.online\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=107320"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}