{"id":133,"date":"2011-05-06T16:31:08","date_gmt":"2011-05-06T16:31:08","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=133"},"modified":"2026-02-25T21:11:01","modified_gmt":"2026-02-25T21:11:01","slug":"the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/05\/06\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\/","title":{"rendered":"The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells (Contributed by Katy Freed PhD)"},"content":{"rendered":"<p>Cystinosis is a debilitating, potentially fatal, inherited metabolic disease. The major genetic defect is a large (57-kb) deletion on chromosome 17 that removes the majority of a cystine transporter gene (<em>CTNS<\/em>). To find other genes that may also play a role in cystinosis, we collected blood cells from cystinosis families and examined the level of all genes in these cells. We found a striking decrease in the level of the <em>TRPV1<\/em> gene in those patients with cystinosis that are homozygous for the 57-kb deletion compared to unaffected controls. This observation was particularly interesting because the <em>TRPV1<\/em> gene is also located on chromosome 17, close to <em>CTNS<\/em>.\u00a0 Thus, the 57-kb deletion also affects the <em>TRPV1<\/em> gene. Given the myriad of functions that TRPV1 plays in the body, including pain transmission and body temperature regulation, future research will focus on the consequences of altered activity of this sensory receptor. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/05\/05\/jmg.2010.083303.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/05\/05\/jmg.2010.083303.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cystinosis is a debilitating, potentially fatal, inherited metabolic disease. The major genetic defect is a large (57-kb) deletion on chromosome 17 that removes the majority of a cystine transporter gene (CTNS). To find other genes that may also play a role in cystinosis, we collected blood cells from cystinosis families and examined the level of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/05\/06\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-133","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells (Contributed by Katy Freed PhD) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/05\/06\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells (Contributed by Katy Freed PhD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cystinosis is a debilitating, potentially fatal, inherited metabolic disease. The major genetic defect is a large (57-kb) deletion on chromosome 17 that removes the majority of a cystine transporter gene (CTNS). To find other genes that may also play a role in cystinosis, we collected blood cells from cystinosis families and examined the level of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/05\/06\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-05-06T16:31:08+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T21:11:01+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/05\\\/06\\\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/05\\\/06\\\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells (Contributed by Katy Freed PhD)\",\"datePublished\":\"2011-05-06T16:31:08+00:00\",\"dateModified\":\"2026-02-25T21:11:01+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/05\\\/06\\\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\\\/\"},\"wordCount\":177,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/05\\\/06\\\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/05\\\/06\\\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/05\\\/06\\\/the-57-kb-deletion-in-cystinosis-patients-extends-into-trpv1-causing-dysregulation-of-transcription-in-peripheral-blood-mononuclear-cells\\\/\",\"name\":\"The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells (Contributed by Katy Freed PhD) - 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