{"id":1434,"date":"2018-08-24T04:12:15","date_gmt":"2018-08-24T04:12:15","guid":{"rendered":"http:\/\/163.180.4.222\/lab\/?p=1434"},"modified":"2023-07-05T15:28:23","modified_gmt":"2023-07-05T06:28:23","slug":"humans-as-models-of-human-disease","status":"publish","type":"post","link":"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=1434","title":{"rendered":"Humans as models of human disease"},"content":{"rendered":"<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>(\uc6d0\ubb38: <a href=\"http:\/\/science.sciencemag.org\/content\/361\/6404\/763.5?rss=1\">\uc5ec\uae30<\/a>\ub97c \ud074\ub9ad\ud558\uc138\uc694~)<\/p>\n<p>&nbsp;<\/p>\n<p><cite>Science\u00a0<\/cite>\u00a024 Aug 2018:<br \/>\nVol. 361, Issue 6404, pp. 763-764<br \/>\nDOI: 10.1126\/science.361.6404.763-e<\/p>\n<p>&nbsp;<\/p>\n<p>Mice are a convenient model for exploring the functions of cellular signaling pathways. Occasionally, however, an \u201cexperiment of nature\u201d highlights the perils of overreliance on mice. RIPK1 is a well studied protein kinase that regulates cell death. Mice deficient in RIPK1 die soon after birth because of the protein&#8217;s widespread role in multiple tissues and organs. Cuchet-Louren\u00e7o\u00a0<em>et al.<\/em>\u00a0studied patients with inherited immunodeficiency of unknown cause (see the Perspective by Pasparakis and Kelliher). They identified inactivating mutations in the\u00a0<em>RIPK1<\/em>gene in four individuals. Unlike what has been seen in mice, the deleterious effects of RIPK1 loss in humans were confined to the immune system, a finding with potential therapeutic implications.<\/p>\n<p>&nbsp;<\/p>\n<p id=\"p-2\"><em>Science<\/em>, this issue p.\u00a0<a href=\"http:\/\/science.sciencemag.org\/lookup\/doi\/10.1126\/science.aar2641\">810<\/a>; see also p.\u00a0<a href=\"http:\/\/science.sciencemag.org\/lookup\/doi\/10.1126\/science.aau6962\">756<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>&nbsp; &nbsp; (\uc6d0\ubb38: \uc5ec\uae30\ub97c \ud074\ub9ad\ud558\uc138\uc694~) &nbsp; Science\u00a0\u00a024 Aug 2018: Vol. 361, Issue 6404, pp. 763-764 DOI: 10.1126\/science.361.6404.763-e &nbsp; Mice are a convenient model for exploring<a href=\"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=1434\" class=\"more-link\">(more&#8230;)<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"jetpack_post_was_ever_published":false,"_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":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2}},"categories":[33,29,30],"tags":[7,3,4],"class_list":["post-1434","post","type-post","status-publish","format-standard","hentry","category-do-biology","category-lets-do-science","category-recent-science-news","tag-do-biology","tag-lets-do-science","tag-recent-science-news"],"aioseo_notices":[],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"","jetpack-related-posts":[{"id":976,"url":"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=976","url_meta":{"origin":1434,"position":0},"title":"CRISPR with a heart of gold helps ailing mice","author":"biochemistry","date":"June 28, 2018","format":false,"excerpt":"\u00a0 \u00a0 (\uc6d0\ubb38) \u00a0 \u00a0 \u00a0 Gene-editing molecules ride gold nanoparticles into the brain. \u00a0 Expression of a protein (blue-green, left) associated with fragile X syndrome is suppressed (right) in the brains of mice treated with CRISPR gene-editing molecules. Credit: B. Lee\u00a0et al.\/Nature\u00a0Biomed. Eng. \u00a0 \u00a0 Scientists are mining gold\u2026","rel":"","context":"In &quot;Let's Do Biology!&quot;","block_context":{"text":"Let's Do Biology!","link":"https:\/\/biochemistry.khu.ac.kr\/lab\/?cat=33"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]},{"id":1128,"url":"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=1128","url_meta":{"origin":1434,"position":1},"title":"Gene editing gets a head start","author":"biochemistry","date":"July 17, 2018","format":false,"excerpt":"\u00a0 \u00a0 (\uc6d0\ubb38: \uc5ec\uae30\ub97c \ud074\ub9ad\ud558\uc138\uc694~) \u00a0 \u00a0 Science\u00a0\u00a013 Jul 2018: Vol. 361, Issue 6398, pp. 142 DOI: 10.1126\/science.361.6398.142-b \u00a0 \u00a0 The development of gene-editing technologies into therapies for human disease is an exciting prospect. A crucial question is whether there are advantages to correcting disease-causing mutations before rather than after\u2026","rel":"","context":"In &quot;Let's Do Biology!&quot;","block_context":{"text":"Let's Do Biology!","link":"https:\/\/biochemistry.khu.ac.kr\/lab\/?cat=33"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]},{"id":2533,"url":"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=2533","url_meta":{"origin":1434,"position":2},"title":"How a fever helps the immune system to battle infection","author":"biochemistry","date":"January 18, 2019","format":false,"excerpt":"\u00a0 \u00a0 The fever that accompanies many infections prompts production of heat-shock proteins, which protect cells from cold, heat and other stresses. Credit: Vicky Kasala Productions\/Getty \u00a0 \u00a0 One type of immune cell jumps into the fray after body temperature rises, according to experiments in mice. \u00a0 A fever fights\u2026","rel":"","context":"In &quot;Let's Do Biology!&quot;","block_context":{"text":"Let's Do Biology!","link":"https:\/\/biochemistry.khu.ac.kr\/lab\/?cat=33"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]},{"id":1591,"url":"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=1591","url_meta":{"origin":1434,"position":3},"title":"Synthesizing a therapeutic probiotic","author":"biochemistry","date":"September 9, 2018","format":false,"excerpt":"\u00a0 \u00a0 (\uc6d0\ubb38: \uc5ec\uae30\ub97c \ud074\ub9ad\ud558\uc138\uc694~) \u00a0 Science\u00a0\u00a007 Sep 2018: Vol. 361, Issue 6406, pp. 988 DOI: 10.1126\/science.361.6406.988-b \u00a0 Phenylketonuria is a disease caused by an inability to metabolize the amino acid phenylalanine, which can accumulate in the blood and brain, causing neurotoxicity. Patients are treated by restricting phenylalanine intake through\u2026","rel":"","context":"In &quot;Let's Do Biology!&quot;","block_context":{"text":"Let's Do Biology!","link":"https:\/\/biochemistry.khu.ac.kr\/lab\/?cat=33"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]},{"id":1535,"url":"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=1535","url_meta":{"origin":1434,"position":4},"title":"Canine CRISPR trial raises \ufeffhopes for humans with deadly disease","author":"biochemistry","date":"September 2, 2018","format":false,"excerpt":"\u00a0 \u00a0 (\uc6d0\ubb38) \u00a0 \u00a0 Dogs with a disorder similar to Duchenne muscular dystrophy improve after gene-editing treatment. \u00a0 \u00a0 A powerful gene-editing technique can stimulate dogs\u2019 production of an important muscle protein, a finding that takes researchers a step closer to trying the technology in humans who have a\u2026","rel":"","context":"In &quot;Let's Do Biology!&quot;","block_context":{"text":"Let's Do Biology!","link":"https:\/\/biochemistry.khu.ac.kr\/lab\/?cat=33"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]},{"id":2637,"url":"https:\/\/biochemistry.khu.ac.kr\/lab\/?p=2637","url_meta":{"origin":1434,"position":5},"title":"Evidence mounts for a role for immune cells in the brain","author":"biochemistry","date":"February 8, 2019","format":false,"excerpt":"\u00a0 Immune cells that flood the brain may help reduce damage from stroke and multiple sclerosis. \u00a0 Mice that received plasma (left) had less nerve damage in the spine than those that didn't (right). Image courtesy of Jennifer Gommerman \u00a0 \u00a0 The brain has always been mysterious to scientists and\u2026","rel":"","context":"In &quot;Let's Do Biology!&quot;","block_context":{"text":"Let's Do Biology!","link":"https:\/\/biochemistry.khu.ac.kr\/lab\/?cat=33"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]}],"jetpack_sharing_enabled":false,"jetpack_shortlink":"https:\/\/wp.me\/p9Xo1j-n8","_links":{"self":[{"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=\/wp\/v2\/posts\/1434","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1434"}],"version-history":[{"count":1,"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=\/wp\/v2\/posts\/1434\/revisions"}],"predecessor-version":[{"id":5625,"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=\/wp\/v2\/posts\/1434\/revisions\/5625"}],"wp:attachment":[{"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1434"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=1434"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/biochemistry.khu.ac.kr\/lab\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=1434"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}