{"id":126,"date":"2014-12-05T08:19:39","date_gmt":"2014-12-05T08:19:39","guid":{"rendered":"http:\/\/faculty.washington.edu\/libinxu\/?page_id=126"},"modified":"2014-12-11T07:08:22","modified_gmt":"2014-12-11T07:08:22","slug":"cholesterol-biosynthesis-disorders","status":"publish","type":"page","link":"https:\/\/faculty.washington.edu\/libinxu\/cholesterol-biosynthesis-disorders\/","title":{"rendered":"Cholesterol Biosynthesis Disorders"},"content":{"rendered":"<p><strong>Cholesterol Biosynthesis Disorders<\/strong><\/p>\n<p>In the postsqualene cholesterol biosynthesis pathway, cyclization of squalene-2,3-epoxide gives the first sterol, lanosterol, which is followed by multi-step transformations, leading to the ultimate product cholesterol (See <strong>Figure<\/strong> below). Depending on whether the C24 double bond is reduced early or later by 3\u03b2-hydroxysterol-\u0394<sup>24<\/sup>-reductase (DHCR24; EC 1.3.1.72), the pathway has been defined as the Kandutsch-Russell pathway (sequence on the right) or Bloch pathway (sequence on the left), respectively. Defects in each step of cholesterol biosynthesis causes a disorder, which results in accumulation of specific cholesterol precursors [1]. In the case of Smith-Lemli-Opitz syndrome, the affected enzyme is 3\u03b2-hydroxysterol-\u0394<sup>7<\/sup>-reductase (DHCR7; EC 1.3.1.21), leading to accumulation of 7-dehydrocholesterol (7-DHC). Notably, 7-DHC also serves as the biosynthesis precursor to vitamin D<sub>3<\/sub> in human skin, where ring-B is opened upon UV irradiation.<\/p>\n<p><a href=\"https:\/\/faculty.washington.edu\/libinxu\/wordpress\/wp-content\/uploads\/2014\/12\/Cholesterol-biosynthesis.jpg\"><img loading=\"lazy\" class=\"alignnone size-full wp-image-127\" src=\"https:\/\/faculty.washington.edu\/libinxu\/wordpress\/wp-content\/uploads\/2014\/12\/Cholesterol-biosynthesis.jpg\" alt=\"Cholesterol biosynthesis\" width=\"782\" height=\"983\" srcset=\"https:\/\/faculty.washington.edu\/libinxu\/wordpress\/wp-content\/uploads\/2014\/12\/Cholesterol-biosynthesis.jpg 782w, https:\/\/faculty.washington.edu\/libinxu\/wordpress\/wp-content\/uploads\/2014\/12\/Cholesterol-biosynthesis-238x300.jpg 238w, https:\/\/faculty.washington.edu\/libinxu\/wordpress\/wp-content\/uploads\/2014\/12\/Cholesterol-biosynthesis-624x784.jpg 624w\" sizes=\"(max-width: 782px) 100vw, 782px\" \/><\/a><\/p>\n<p><strong>Reference<\/strong><\/p>\n<p>1. Porter, F. D., and Herman, G. E. (2011) <a href=\"http:\/\/www.jlr.org\/content\/52\/1\/6\" target=\"_blank\">Malformation syndromes caused by disorders of cholesterol synthesis<\/a>, <em>J. Lipid Res<\/em>. <em>52<\/em>, 6-34.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cholesterol Biosynthesis Disorders In the postsqualene cholesterol biosynthesis pathway, cyclization of squalene-2,3-epoxide gives the first sterol, lanosterol, which is followed by multi-step transformations, leading to the ultimate product cholesterol (See Figure below). Depending on whether the C24 double bond is reduced early or later by 3\u03b2-hydroxysterol-\u039424-reductase (DHCR24; EC 1.3.1.72), the pathway has been defined as [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/pages\/126"}],"collection":[{"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/comments?post=126"}],"version-history":[{"count":4,"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/pages\/126\/revisions"}],"predecessor-version":[{"id":243,"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/pages\/126\/revisions\/243"}],"wp:attachment":[{"href":"https:\/\/faculty.washington.edu\/libinxu\/wp-json\/wp\/v2\/media?parent=126"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}