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class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>COX10<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u8907\u5408\u4f53IV\uff08\u30c1\u30c8\u30af\u30ed\u30e0c\u9178\u5316\u9175\u7d20\u3001COX\uff09\u306f<strong>\u30d8\u30e0a\u30fba3\u30682\u3064\u306e\u9285\u4e2d\u5fc3\uff08CuA\u3001CuB\uff09\u3092\u6709\u3059\u308b14\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u9175\u7d20\u8907\u5408\u4f53<\/strong>\u3067\u3001\u30c1\u30c8\u30af\u30ed\u30e0c\u304b\u3089\u53d7\u3051\u53d6\u3063\u305f\u96fb\u5b50\u3092\u9178\u7d20\u3078\u6e21\u3057\uff084e\u207b + O\u2082 + 4H\u207a \u2192 2H\u2082O\uff09\u3001\u540c\u6642\u306b\u30d7\u30ed\u30c8\u30f3\u3092\u819c\u9593\u8154\u3078\u6c72\u307f\u51fa\u3059\u3002<strong>\u89e6\u5a92\u4e2d\u5fc3\u3092\u69cb\u6210\u3059\u308bCOX1\u30fbCOX2\u30fbCOX3\u306fmtDNA\u30b3\u30fc\u30c9<\/strong>\u3067\u3001\u6b8b\u308a\u306e11\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3068<strong>\u30d8\u30e0a\u5408\u6210\uff08COX10\u3001COX15\uff09\u3001\u9285\u8f38\u9001\uff08SCO1\u3001SCO2\u3001COX17\u3001COA6\uff09\u3001\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u819c\u633f\u5165\uff08COX20\u3001COX14\u3001COA3\uff09\u3001\u30e2\u30b8\u30e5\u30fc\u30eb\u96c6\u5408\uff08PET100\u3001PET117\u3001SURF1\uff09<\/strong>\u3092\u62c5\u3046\u591a\u6570\u306e\u56e0\u5b50\u304c\u6838\u30b3\u30fc\u30c9\u3067\u3042\u308b\u3002<\/p>\n\n\n<p><strong>COX10<\/strong>\uff0817p12\uff09\u306f\u30d8\u30e0O\/A\u30d5\u30a1\u30eb\u30cd\u30b7\u30eb\u8ee2\u79fb\u9175\u7d20\u3067\u3001<strong>\u8907\u5408\u4f53IV\u306eCOX1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306b\u7d44\u307f\u8fbc\u307e\u308c\u308b\u30d8\u30e0A\u306e\u751f\u5408\u6210<\/strong>\u3092\u62c5\u3046\u3002<strong>\u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u969c\u5bb3\uff08\u30d5\u30a1\u30f3\u30b3\u30cb\u75c7\u5019\u7fa4\uff09\u306e\u5408\u4f75\u304c\u672c\u578b\u3067\u76ee\u7acb\u3064<\/strong>\u70b9\u306f\u81e8\u5e8a\u7684\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002\u8868\u73fe\u578b\u306f\u4e73\u5150\u671f\u767a\u75c7\u306e\u8133\u75c7\u30fb\u809d\u969c\u5bb3\u30fb\u5fc3\u7b4b\u75c7\u304b\u3089\u7de9\u5f90\u9032\u884c\u6027\u306e\u767d\u8cea\u8133\u75c7\u307e\u3067\u5e45\u304c\u3042\u308a\u3001<strong>\u672c\u907a\u4f1d\u5b50\u306f17p12\u306eCMT1A\u91cd\u8907\uff0fHNPP\u6b20\u5931\u9818\u57df\u306e\u8fd1\u508d\u306b\u4f4d\u7f6e\u3059\u308b<\/strong>\u304c\u3001\u305d\u308c\u3089\u306e\u672b\u68a2\u795e\u7d4c\u75be\u60a3\u3068\u306f\u5225\u306e\u75c5\u614b\u3067\u3042\u308b\u3002<\/p>\n\n\n<p>\u8907\u5408\u4f53IV\u5358\u72ec\u6b20\u640d\u306e\u6700\u983b\u539f\u56e0\u306f<strong><em>SURF1<\/em>\uff08\u30ea\u30fc\u8133\u75c7\uff09<\/strong>\u3067\u3042\u308a\u3001\u6b21\u3044\u3067<em>SCO2<\/em>\uff08\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff09\u3001<em>COX15<\/em>\uff08\u5fc3\u7b4b\u75c7\u30fb\u30ea\u30fc\u8133\u75c7\uff09\u3001<em>COX10<\/em>\uff08\u5c3f\u7d30\u7ba1\u969c\u5bb3\uff09\u304c\u77e5\u3089\u308c\u308b\u3002<strong>\u6838\u30b3\u30fc\u30c9\u306e\u578b\u3067\u306f\u3001\u907a\u4f1d\u5b50\u3054\u3068\u306b\u300c\u3069\u306e\u81d3\u5668\u304c\u4e3b\u306b\u4fb5\u3055\u308c\u308b\u304b\u300d\u306e\u50be\u5411\u304c\u3042\u308b\u7a0b\u5ea6\u5b9a\u307e\u3063\u3066\u304a\u308a<\/strong>\u3001\u81e8\u5e8a\u50cf\u304b\u3089\u5019\u88dc\u3092\u7d5e\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001mtDNA\u306eMT-CO1\/2\/3\u5909\u7570\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2tRNA\u5909\u7570\uff08MELAS\u3001MERRF\uff09\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7\u3001<strong>\u6cbb\u7642\u53cd\u5fdc\u6027\u306e\u3042\u308b\u30d3\u30aa\u30c1\u30f3\u30fb\u30c1\u30a2\u30df\u30f3\u53cd\u5fdc\u6027\u57fa\u5e95\u6838\u75c7\uff08<em>SLC19A3<\/em>\uff09<\/strong>\u304c\u6319\u304c\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u8907\u5408\u4f53IV\u6b20\u640d\u75c7\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u306a\u304b\u3067\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u578b\u306e\u3072\u3068\u3064\u3067\u3059\u304c\u3001\u500b\u3005\u306e\u907a\u4f1d\u5b50\u306b\u3088\u308b\u578b\u306f\u3044\u305a\u308c\u3082\u975e\u5e38\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u4e73\u9178\u304c\u6b63\u5e38\u3067\u3082\u3053\u306e\u75c5\u6c17\u306e\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u3042\u308a\u307e\u3059\u3002<\/strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u3067\u306f\u4e73\u9178\u304c\u9ad8\u3044\u3053\u3068\u304c\u591a\u3044\u306e\u3067\u3059\u304c\u3001\u6b63\u5e38\u306a\u75c7\u4f8b\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u4e73\u9178\u304c\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u3092\u7406\u7531\u306b\u3001\u3053\u306e\u75c5\u6c17\u3092\u5426\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u4f53\u8abf\u3092\u304f\u305a\u3057\u305f\u3068\u304d\u3001\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u767a\u71b1\u3084\u4e0b\u75e2\u3067\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u3001\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u70b9\u6ef4\u3067\u30d6\u30c9\u30a6\u7cd6\u3068\u6c34\u5206\u3092\u88dc\u3046\u3053\u3068\u3067\u3001\u6025\u306a\u60aa\u5316\u3092\u9632\u3052\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u304b\u304b\u308a\u3064\u3051\u533b\u306b\u75c5\u540d\u3068\u6ce8\u610f\u70b9\u3092\u66f8\u3044\u305f\u60c5\u5831\u63d0\u4f9b\u66f8\u3092\u7528\u610f\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5c3f\u306e\u691c\u67fb\u3067\u7570\u5e38\u304c\u3042\u308b\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u814e\u81d3\u306e\u5c3f\u7d30\u7ba1\u304c\u3046\u307e\u304f\u306f\u305f\u3089\u304b\u305a\u3001\u7cd6\u3084\u30a2\u30df\u30ce\u9178\u304c\u5c3f\u306b\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8840\u6db2\u3068\u5c3f\u306e\u691c\u67fb\u3067\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306a\u88dc\u5145\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u306a\u304a<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u306e\u5909\u5316\u306b\u3088\u308b\u75c5\u6c17\u306f\u304a\u6bcd\u3055\u307e\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u304c\u3001\u3053\u306e\u578b\u306f\u6838\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u907a\u4f1d\u306e\u4ed5\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Rak M, B\u00e9nit P, Chr\u00e9tien D, et al. Mitochondrial cytochrome c oxidase deficiency. <em>Clin Sci (Lond)<\/em>. 2016;130(6):393-407.<\/li>\n\n\n\n<li>Tim\u00f3n-G\u00f3mez A, N\u00fdvltov\u00e1 E, Abriata LA, et al. Mitochondrial cytochrome c oxidase biogenesis: recent developments. <em>Semin Cell Dev Biol<\/em>. 2018;76:163-178.<\/li>\n\n\n\n<li>Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: one disorder, more than 75 monogenic causes. <em>Ann Neurol<\/em>. 2016;79(2):190-203.<\/li>\n\n\n\n<li>Antonicka H, Leary SC, Guercin GH, et al. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. <em>Hum Mol Genet<\/em>. 2003;12(20):2693-2702.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-137003","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137003","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137003\/revisions"}],"predecessor-version":[{"id":137321,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137003\/revisions\/137321"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=137003"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}