{"id":644798,"date":"2024-11-21T01:10:10","date_gmt":"2024-11-20T22:10:10","guid":{"rendered":"https:\/\/en.buradabiliyorum.com\/major-genetic-defect-linked-to-female-infertility-identified\/"},"modified":"2024-11-21T01:10:10","modified_gmt":"2024-11-20T22:10:10","slug":"major-genetic-defect-linked-to-female-infertility-identified","status":"publish","type":"post","link":"https:\/\/buradabiliyorum.com\/en\/major-genetic-defect-linked-to-female-infertility-identified\/","title":{"rendered":"#Major genetic defect linked to female infertility identified"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Table of Contents<\/p>\n<label for=\"ez-toc-cssicon-toggle-item-6a39407557753\" class=\"ez-toc-cssicon-toggle-label\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #dd3333;color:#dd3333\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #dd3333;color:#dd3333\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/label><input type=\"checkbox\"  id=\"ez-toc-cssicon-toggle-item-6a39407557753\" checked aria-label=\"Toggle\" \/><nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/buradabiliyorum.com\/en\/major-genetic-defect-linked-to-female-infertility-identified\/#About_one_in_100_Finns_carry_the_TBPL2_gene_defect\" >About one in 100 Finns carry the TBPL2 gene defect<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/buradabiliyorum.com\/en\/major-genetic-defect-linked-to-female-infertility-identified\/#Knowledge_of_the_gene_defect_could_guide_infertility_treatments\" >Knowledge of the gene defect could guide infertility treatments<\/a><\/li><\/ul><\/nav><\/div>\n<div>\n<div class=\"article-gallery lightGallery\">\n<div data-thumb=\"https:\/\/scx1.b-cdn.net\/csz\/news\/tmb\/2024\/major-genetic-defect-l.jpg\" data-src=\"https:\/\/scx2.b-cdn.net\/gfx\/news\/hires\/2024\/major-genetic-defect-l.jpg\" data-sub-html=\"Manhattan plots for female infertility. Credit: &lt;i&gt;The American Journal of Human Genetics&lt;\/i&gt; (2024). DOI: 10.1016\/j.ajhg.2024.10.018\">\n<figure class=\"article-img\">\n            <img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/scx1.b-cdn.net\/csz\/news\/800a\/2024\/major-genetic-defect-l.jpg\" alt=\"Major genetic defect linked to female infertility identified in Finland\" title=\"Manhattan plots for female infertility. Credit: The American Journal of Human Genetics (2024). DOI: 10.1016\/j.ajhg.2024.10.018\" width=\"800\" height=\"418\"\/><figcaption class=\"text-darken text-low-up text-truncate-js text-truncate mt-3\">\n                Manhattan plots for female infertility. Credit: <i>The American Journal of Human Genetics<\/i> (2024). DOI: 10.1016\/j.ajhg.2024.10.018<br \/>\n            <\/figcaption><\/figure>\n<\/p><\/div>\n<\/div>\n<p>Up to 15% of all couples suffer from infertility at some point in their lives. Lack of knowledge about the causes of fertility problems can lead to prolonged clinical testing and extended treatment periods.<\/p>\n<p>A study led by the University of Helsinki used the FinnGen Study cohort to uncover the genetic basis of female infertility. The study is <a rel=\"nofollow\" target=\"_blank\" href=\"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929724003872\" target=\"_blank\">published<\/a> in <i>The American Journal of Human Genetics<\/i>.<\/p>\n<p>By comparing over 22,000 women who had received infertility treatments with nearly 200,000 women who had given birth, the research team identified five genetic regions associated with the risk of infertility.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"About_one_in_100_Finns_carry_the_TBPL2_gene_defect\"><\/span>About one in 100 Finns carry the TBPL2 gene defect<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The strongest association was found with a genetic defect in a gene called TBPL2. This mutation is more than 40 times more common in Finland than elsewhere in the world. About one in 100 Finns carry this genetic defect.<\/p>\n<p>The TBPL2 gene defect was found to cause infertility only in women who have inherited the non-functional form of the gene from both parents. The genetic defect does not affect male fertility.<\/p>\n<p>&#8220;Our results showed that the association of the TBPL2 mutation and the average number of children in women is very clear,&#8221; says Sanni Ruotsalainen, lead author of the study, from the Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki.<\/p>\n<p>&#8220;We can estimate that there are about 400\u2013500 women in Finland with two copies of this gene defect.&#8221;<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Knowledge_of_the_gene_defect_could_guide_infertility_treatments\"><\/span>Knowledge of the gene defect could guide infertility treatments<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The study also identified other genetic variants associated with infertility in women. These genetic regions have previously been linked either to infertility or to conditions causing it, such as endometriosis and polycystic ovary syndrome, and their impact on infertility risk is smaller than that of the TBPL2 gene defect.<\/p>\n<p>The TBPL2 gene is known to act as a regulator of other genes in the ovaries. It <a href=\"https:\/\/buradabiliyorum.com\/en\/category\/download-scripts-themes-apps\/\" data-internallinksmanager029f6b8e52c=\"9\" title=\"Download Scripts &amp; Themes &amp; Apps\" target=\"_blank\" rel=\"noopener\">app<\/a>ears that the absence of the correct gene product prevents normal maturation of oocytes.<\/p>\n<p>&#8220;Next, we aim to determine if there is a specific characteristic in women who have inherited two copies of the genetic defect that could help identify them during a doctor&#8217;s visit. A diagnostic genetic test could be one way to utilize our findings, but first we need more information about prognosis and the most effective treatments,&#8221; says FIMM Group Leader Elisabeth Wid\u00e9n who led the study.<\/p>\n<p>&#8220;More medical research is needed to better understand the genetic factors associated with infertility and to better assist couples affected by it.&#8221;<\/p>\n<div class=\"article-main__more p-4\">\n<p><strong>More information:<\/strong><br \/>\n                                                    Sanni Ruotsalainen et al, Inherited infertility: Mapping loci associated with impaired female reproduction, <i>The American Journal of Human Genetics<\/i> (2024). <a rel=\"nofollow\" target=\"_blank\" data-doi=\"1\" href=\"https:\/\/dx.doi.org\/10.1016\/j.ajhg.2024.10.018\" target=\"_blank\">DOI: 10.1016\/j.ajhg.2024.10.018<\/a><\/p>\n<\/p><\/div>\n<div class=\"d-inline-block text-medium my-4\">\n\t\t\t\t\t\t\t\t\t\t\t\tProvided by<br \/>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\tUniversity of Helsinki<br \/>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a rel=\"nofollow\" target=\"_blank\" class=\"icon_open\" href=\"http:\/\/www.helsinki.fi\/\" target=\"_blank\" rel=\"nofollow\"><br \/>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<svg>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<use href=\"https:\/\/medx.b-cdn.net\/tmpl\/v6\/img\/svg\/sprite.svg#icon_open\" x=\"0\" y=\"0\"\/>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/svg><br \/>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/a><\/p><\/div>\n<p>                                        <!-- print only --><\/p>\n<div class=\"d-none d-print-block\">\n<p>\n                                                 <strong>Citation<\/strong>:<br \/>\n                                                 Major genetic defect linked to female infertility identified (2024, November 20)<br \/>\n                                                 retrieved 20 November 2024<br \/>\n                                                 from https:\/\/medicalxpress.com\/<a href=\"https:\/\/buradabiliyorum.com\/en\/category\/news\/\" data-internallinksmanager029f6b8e52c=\"2\" title=\"News\" target=\"_blank\" rel=\"noopener\">news<\/a>\/2024-11-major-genetic-defect-linked-female.html\n                                            <\/p>\n<p>\n                                            This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no<br \/>\n                                            part may be reproduced without the written permission. The content is provided for information purposes only.\n                                            <\/p>\n<\/p><\/div>\n<\/p><\/div>\n<p><script id=\"facebook-jssdk\" async=\"\" src=\"https:\/\/connect.facebook.net\/en_US\/sdk.js\"><\/script><\/p>\n<blockquote><p><strong><span style=\"color: #ff6600;\">If you liked the article, do not forget to share it with your friends. Follow us on\u00a0<span style=\"color: #ff0000;\"><a style=\"color: #ff0000;\" href=\"https:\/\/news.google.com\/publications\/CAAqBwgKMN63nwsw68G3Aw\" target=\"_blank\" rel=\"nofollow noopener noreferrer\">Google News<\/a><\/span>\u00a0too, click on the star and choose us from your favorites.<\/span><\/strong><\/p><\/blockquote>\n<blockquote>\n<p style=\"text-align: center;\"><strong>If you want to read more Like this articles, you can visit our <span style=\"color: #ff9900;\"><a style=\"color: #ff9900;\" href=\"https:\/\/en.buradabiliyorum.com\/sciencee\/\" target=\"_blank\" >Science category.<\/a><\/span><\/strong><\/p>\n<\/blockquote>\n<p><span style=\"color: black;\"><a style=\"color: #ff9900;\" href=\"https:\/\/medicalxpress.com\/news\/2024-11-major-genetic-defect-linked-female.html\" target=\"_blank\" >Source<\/a><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Manhattan plots for female infertility. Credit: The American Journal of Human Genetics (2024). DOI: 10.1016\/j.ajhg.2024.10.018 Up to 15% of all couples suffer from infertility at some point in their lives. Lack of knowledge about the causes of fertility problems can lead to prolonged clinical testing and extended treatment periods. A study led by the University&#8230;<\/p>\n","protected":false},"author":1,"featured_media":644799,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"fifu_image_url":"https:\/\/scx2.b-cdn.net\/gfx\/news\/hires\/2024\/major-genetic-defect-l.jpg","fifu_image_alt":"","footnotes":""},"categories":[16],"tags":[],"class_list":["post-644798","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sciencee"],"_links":{"self":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/posts\/644798","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/comments?post=644798"}],"version-history":[{"count":0,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/posts\/644798\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/media\/644799"}],"wp:attachment":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/media?parent=644798"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/categories?post=644798"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/tags?post=644798"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}