{"id":168,"date":"2023-12-13T00:00:00","date_gmt":"2023-12-13T00:00:00","guid":{"rendered":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1229088"},"modified":"2023-12-13T00:00:00","modified_gmt":"2023-12-13T00:00:00","slug":"novel-enhancer-mediates-the-rpl36a-hnrnph2-readthrough-loci-and-gla-gene-expressions-associated-with-fabry-disease","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/13\/novel-enhancer-mediates-the-rpl36a-hnrnph2-readthrough-loci-and-gla-gene-expressions-associated-with-fabry-disease\/","title":{"rendered":"Novel enhancer mediates the RPL36A-HNRNPH2 readthrough loci and GLA gene expressions associated with fabry disease"},"content":{"rendered":"<p>Fabry disease (FD) is a rare genetic condition caused by mutations in the <italic>GLA<\/italic> gene, located on the X chromosome in the <italic>RPL36-HNRNPH2<\/italic> readthrough genomic region. This gene produces an enzyme called alpha-galactosidase A (\u03b1-Gal A). When the enzyme does not function properly due to the mutations, it causes harmful substances called globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to build up in the body\u2019s lysosomes. This accumulation can damage the kidneys, heart, eyes, and nervous system. Recent studies have shown that the <italic>RPL36A-HNRNPH2<\/italic> readthrough loci, which include <italic>RPL36A<\/italic> and <italic>HNRNPH2<\/italic> genes, as well as the regulatory sequence known as the <italic>GLA-HNRNPH2<\/italic> bidirectional promoter, may also play a role in FD. However, the involvement of enhancer RNAs (eRNAs) in FD is still poorly understood despite their known role in various diseases. To investigate this further, we studied an <italic>RPL36A<\/italic> enhancer called GH0XJ101390 and showed its genomic setting in the <italic>RPL36-HNRNPH2<\/italic> readthrough region; the eRNA is rich in Homotypic Clusters of TFBSs (HCTs) type and hosts a CpG Island (CGI). To test the functional correlation further with <italic>GLA<\/italic>, <italic>RPL36A<\/italic>, and <italic>HNRNPH2<\/italic>, we used siRNAs to knock down GH0XJ101390 in human kidney embryonic cells 293T. The results showed a significant decrease in <italic>RPL36A<\/italic> and <italic>GLA<\/italic> expression and a non-significant decrease in <italic>HNRNPH2<\/italic> expression. These findings could have important implications for understanding the regulatory mechanisms of GH0XJ101390 and its potential role in FD. A better understanding of these mechanisms may improve diagnostic and therapeutic methods for FD, which could ultimately benefit patients with this rare condition.<\/p>","protected":false},"excerpt":{"rendered":"<p>Fabry disease (FD) is a rare genetic condition caused by mutations in the GLA gene, located on the X chromosome in the RPL36-HNRNPH2 readthrough genomic region. This gene produces an enzyme called alpha-galactosidase A (\u03b1-Gal A). When the enzyme does n&#8230;<\/p>\n","protected":false},"author":35,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,12,13],"tags":[],"class_list":["post-168","post","type-post","status-publish","format-standard","hentry","category-articulos","category-enfermedades-raras","category-frontiers-in-genetics"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/168","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/35"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=168"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/168\/revisions"}],"predecessor-version":[{"id":169,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/168\/revisions\/169"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=168"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=168"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=168"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}