{"id":3778,"date":"2015-01-19T12:03:45","date_gmt":"2015-01-19T17:03:45","guid":{"rendered":"http:\/\/sciencemediacentre.ca\/site\/?p=3778"},"modified":"2015-01-20T11:08:25","modified_gmt":"2015-01-20T16:08:25","slug":"rare-shared-genetic-mutation-behind-inuit-disease","status":"publish","type":"post","link":"http:\/\/sciencemediacentre.ca\/site\/rare-shared-genetic-mutation-behind-inuit-disease\/","title":{"rendered":"Rare shared genetic mutation behind Inuit disease<img src=\"http:\/\/sciencemediacentre.ca\/site\/wp-content\/uploads\/2014\/01\/canada_flag_icon_small.gif\">"},"content":{"rendered":"<p><a href=\"http:\/\/sciencemediacentre.ca\/site\/wp-content\/uploads\/2013\/12\/SMCC-english2.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter size-full wp-image-110\" src=\"http:\/\/sciencemediacentre.ca\/site\/wp-content\/uploads\/2013\/12\/SMCC-english2.jpg\" alt=\"SMCC-english2\" width=\"255\" height=\"126\" \/><\/a><\/p>\n<p>Scientists have found the gene mutations responsible for a rare disease which impairs the function of the liver and muscles in about 1 in 2500 Inuits in northern Quebec. Called glycogen storage disease type IIIa, this sickness causes a buildup of glycogen, a complex sugar, in the body. This in turn produces low blood sugar and high amounts of fat in blood.<\/p>\n<p>This discovery will help physicians perform genetic screening of newborns in the population to detect the disease early, thus potentially reduce the long-term health impacts.<\/p>\n<p>By performing genome sequencing on five Inuit children, and whole-genome sequencing on two of the children, researchers discovered that a mutation inherited from both parents is the cause of the disease.<\/p>\n<p><a href=\"http:\/\/www.cmaj.ca\/content\/early\/2015\/01\/19\/cmaj.140840\" target=\"_blank\"><span style=\"text-decoration: underline;\">Original research paper<\/span><\/a>\u00a0published in the\u00a0<em>Canadian Medical Association Journal\u00a0<\/em>on\u00a0<strong>January\u00a019<\/strong><span class=\"aBn\" tabindex=\"0\" data-term=\"goog_453723367\"><span class=\"aQJ\"><strong>, 2015<\/strong>.<\/span><\/span><\/p>\n<p><span style=\"text-decoration: underline;\"><em><strong>Names and affiliations of selected\u00a0authors<\/strong><\/em><\/span><\/p>\n<h4>Celia Rodd, Children\u2019s Hospital Research Institute of Manitoba, Manitoba<\/h4>\n","protected":false},"excerpt":{"rendered":"<p>Scientists have found the gene mutations responsible for a rare disease which impairs the function of the liver and muscles in about 1 in 2500 Inuits in northern Quebec. Called glycogen storage disease type IIIa, this sickness causes a buildup of glycogen, a complex sugar, in the body. This in turn produces low blood sugar [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[25],"tags":[909,51,2319,847,476],"class_list":["post-3778","post","type-post","status-publish","format-standard","hentry","category-paper-of-interest","tag-genetics","tag-health","tag-inuit","tag-manitoba-en","tag-public-health"],"jetpack_featured_media_url":"","jetpack_shortlink":"https:\/\/wp.me\/p4DqbN-YW","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/posts\/3778","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/comments?post=3778"}],"version-history":[{"count":4,"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/posts\/3778\/revisions"}],"predecessor-version":[{"id":3801,"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/posts\/3778\/revisions\/3801"}],"wp:attachment":[{"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/media?parent=3778"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/categories?post=3778"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/sciencemediacentre.ca\/site\/wp-json\/wp\/v2\/tags?post=3778"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}