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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\u4f53I\uff08NADH:\u30e6\u30d3\u30ad\u30ce\u30f3\u9178\u5316\u9084\u5143\u9175\u7d20\uff09\u306f<strong>45\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304b\u3089\u306a\u308bL\u5b57\u578b\u306e\u30db\u30ed\u9175\u7d20<\/strong>\u3067\u30017\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff08ND1-ND6\u3001ND4L\uff09\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u3001\u6b8b\u308b38\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306f\u6838DNA\u306b\u30b3\u30fc\u30c9\u3055\u308c\u308b\u3002N\u52a0\u7fa4\u3067NADH\u304b\u3089\u96fb\u5b50\u3092\u53d7\u3051\u53d6\u308a\u3001Q\u52a0\u7fa4\u3092\u7d4c\u3066\u30e6\u30d3\u30ad\u30ce\u30f3\u3078\u6e21\u3059\u3068\u3068\u3082\u306b\u3001\u819c\u30a2\u30fc\u30e0\uff08ND\u52a0\u7fa4\u30fbP\u52a0\u7fa4\uff09\u3067<strong>4\u500b\u306e\u30d7\u30ed\u30c8\u30f3\u3092\u819c\u9593\u8154\u3078\u6c72\u307f\u51fa\u3059<\/strong>\u3002\u6838\u30b2\u30ce\u30e0\u578b\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u306f\u3001\u30b3\u30a2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u30fb\u4ed8\u5c5e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u30fb\u30a2\u30bb\u30f3\u30d6\u30ea\u56e0\u5b50\u306e\u3044\u305a\u308c\u306e\u7570\u5e38\u3067\u3082\u751f\u3058\u3001<strong>\u73fe\u572830\u4ee5\u4e0a\u306e\u75c5\u578b\uff08nuclear type\uff09\u304c\u767b\u9332\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002<\/p>\n\n\n<p><strong>NDUFS1<\/strong>\uff082q33.3\uff09\u306f75 kDa\u30b3\u30a2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3001<strong>N1b\u30fbN4\u30fbN5\u306e3\u3064\u306e\u9244\u786b\u9ec4\u30af\u30e9\u30b9\u30bf\u30fc\u3092\u4fdd\u6301\u3059\u308b\u96fb\u5b50\u4f1d\u9054\u306e\u4e3b\u9396<\/strong>\u3092\u69cb\u6210\u3059\u308b\u3002\u5909\u7570\u306f\u6b8b\u5b58\u6d3b\u6027\u306e\u7a0b\u5ea6\u3068\u76f8\u95a2\u3057\u3001\u91cd\u7be4\u306a\u6a5f\u80fd\u55aa\u5931\u578b\u3067\u306f\u65b0\u751f\u5150\u671f\u767a\u75c7\u306e\u81f4\u6b7b\u7684\u7d4c\u904e\u3092\u3001\u90e8\u5206\u7684\u6a5f\u80fd\u6b8b\u5b58\u578b\u3067\u306f\u30ea\u30fc\u8133\u75c7\u3084\u7de9\u5f90\u9032\u884c\u6027\u306e\u767d\u8cea\u8133\u75c7\u3092\u5448\u3059\u308b\u3002\u8fd1\u5e74\u3001<strong>\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u6642\u306bNDUFS1\u304c\u30ab\u30b9\u30d1\u30fc\u30bc3\u306b\u3088\u308a\u5207\u65ad\u3055\u308c\u308b<\/strong>\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3001\u7d30\u80de\u6b7b\u5236\u5fa1\u3068\u306e\u95a2\u9023\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u4e0a\u306eND\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u30ea\u30fc\u8133\u75c7\u30fbMELAS\u30fbLHON\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7\u3001\u8907\u5408\u4f53IV\u6b20\u640d\u75c7\u3001\u30d3\u30aa\u30c1\u30f3\u30fb\u30c1\u30a2\u30df\u30f3\u53cd\u5fdc\u6027\u57fa\u5e95\u6838\u75c7\uff08<em>SLC19A3<\/em>\uff09\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u30d3\u30aa\u30c1\u30f3\u30fb\u30c1\u30a2\u30df\u30f3\u53cd\u5fdc\u6027\u57fa\u5e95\u6838\u75c7\u306f\u6cbb\u7642\u53cd\u5fdc\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u30ea\u30fc\u8133\u75c7\u69d8\u306e\u753b\u50cf\u6240\u898b\u3092\u307f\u305f\u3089\u5fc5\u305a\u9664\u5916\u3059\u308b\u3002<\/strong><\/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\u4f53I\u6b20\u640d\u75c7\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u306a\u304b\u3067\u306f\u6700\u3082\u591a\u3044\u578b\u306e\u3072\u3068\u3064\u3067\u3001\u5c0f\u5150\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u304a\u3088\u305d3\u5206\u306e1\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u305d\u306e\u306a\u304b\u3067\u500b\u3005\u306e\u907a\u4f1d\u5b50\u306b\u3088\u308b\u578b\u306f\u305d\u308c\u305e\u308c\u975e\u5e38\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u4e0a\u306e\u5b50\u306f\u5143\u6c17\u3067\u3059\u3002\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\u4e0a\u306e\u304a\u5b50\u3055\u307e\u304c\u5143\u6c17\u3067\u3042\u3063\u3066\u3082\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u78ba\u7387\u306f\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ea\u30fc\u8133\u75c7\u3068\u306f\u4f55\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u8133\u306e\u6df1\u3044\u90e8\u5206\uff08\u57fa\u5e95\u6838\uff09\u3084\u8133\u5e79\u304c\u5de6\u53f3\u5bfe\u79f0\u306b\u4fb5\u3055\u308c\u308b\u72b6\u614b\u3092\u307e\u3068\u3081\u305f\u547c\u3073\u65b9\u3067\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306f75\u7a2e\u985e\u4ee5\u4e0a\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u305d\u306e\u306a\u304b\u3067\u8907\u5408\u4f53I\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u767d\u8cea\u8133\u75c7\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002\u30ea\u30fc\u8133\u75c7\u3068\u306f\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u57fa\u5e95\u6838\u3092\u4e2d\u5fc3\u306b\u4fb5\u3055\u308c\u308b\u5834\u5408\uff08\u30ea\u30fc\u8133\u75c7\uff09\u3068\u3001\u5927\u8133\u306e\u767d\u8cea\u304c\u5e83\u304f\u4fb5\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3069\u3061\u3089\u3082\u3053\u306e\u75c5\u6c17\u306e\u73fe\u308c\u65b9\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65e5\u5e38\u751f\u6d3b\u3067\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u9577\u3044\u6642\u9593\u306e\u7d76\u98df\u3092\u907f\u3051\u308b\u3053\u3068\u3001\u767a\u71b1\u3084\u4e0b\u75e2\u306e\u3068\u304d\u306b\u65e9\u3081\u306b\u53d7\u8a3a\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u4e88\u9632\u63a5\u7a2e\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u306e\u3046\u3048\u3001\u4f53\u8abf\u306e\u3088\u3044\u3068\u304d\u306b\u53d7\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Rodenburg RJ. Mitochondrial complex I-linked disease. <em>Biochim Biophys Acta<\/em>. 2016;1857(7):938-945.<\/li>\n\n\n\n<li>Fiedorczuk K, Sazanov LA. Mammalian mitochondrial complex I structure and disease-causing mutations. <em>Trends Cell Biol<\/em>. 2018;28(10):835-867.<\/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>B\u00e9nit P, Chretien D, Kadhom N, et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. <em>Am J Hum Genet<\/em>. 2001;68(6):1344-1352.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136908","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\/136908","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\/136908\/revisions"}],"predecessor-version":[{"id":137226,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136908\/revisions\/137226"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136908"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}