{"id":122003,"date":"2026-01-08T13:54:57","date_gmt":"2026-01-08T04:54:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122003"},"modified":"2026-03-03T16:18:09","modified_gmt":"2026-03-03T07:18:09","slug":"mitochondrial-myopathy-and-sideroblastic-anemia-mlasa1-pus1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-myopathy-and-sideroblastic-anemia-mlasa1-pus1\/","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u9244\u82bd\u7403\u6027\u8ca7\u8840\uff08MLASA1\uff09\u3001PUS1"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u9244\u82bd\u7403\u6027\u8ca7\u8840\uff08MLASA1\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u86cb\u767d\u5408\u6210\u306b\u95a2\u4e0e\u3059\u308bPUS1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5e0c\u5c11\u306a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u3067\u3059\u3002PUS1\u306ftRNA\u306e\u4fee\u98fe\uff08\u30b7\u30e5\u30fc\u30c9\u30a6\u30ea\u30b8\u30f3\u5316\uff09\u3092\u62c5\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u86cb\u767d\u7ffb\u8a33\u304c\u969c\u5bb3\u3055\u308c\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u306e\u9ad8\u3044\u9aa8\u683c\u7b4b\u3084\u9020\u8840\u7cfb\u304c\u969c\u5bb3\u3055\u308c\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u9244\u82bd\u7403\u6027\u8ca7\u8840\u3092\u4e3b\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75be\u60a3\u306f\u4e73\u5150\u671f\u301c\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u6613\u75b2\u52b4\u3001\u904b\u52d5\u4e0d\u8010\u6027\u3068\u3068\u3082\u306b\u3001\u9032\u884c\u6027\u306e\u8ca7\u8840\u3092\u5448\u3057\u307e\u3059\u3002\u5fc3\u7b4b\u75c7\u3084\u5185\u5206\u6ccc\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

MLASA1\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306b\u5831\u544a\u4f8b\u306f100\u4f8b\u672a\u6e80\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5b9a\u306e\u5730\u57df\u3084\u6c11\u65cf\u96c6\u56e3\u3067\u306e\u96c6\u7a4d\u306f\u77e5\u3089\u308c\u3066\u304a\u3089\u305a\u3001\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fPUS1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002PUS1\u907a\u4f1d\u5b50\u306f\u30d2\u30c812\u756a\u67d3\u8272\u4f53\uff0812q24\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u6838\u304a\u3088\u3073\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306etRNA\u3092\u4fee\u98fe\u3059\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002tRNA\u4fee\u98fe\u306f\u86cb\u767d\u7ffb\u8a33\u306e\u6b63\u78ba\u6027\u3068\u52b9\u7387\u306b\u91cd\u8981\u3067\u3042\u308a\u3001\u305d\u306e\u969c\u5bb3\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u86cb\u767d\u5408\u6210\u4f4e\u4e0b\u3092\u901a\u3058\u3066\u547c\u5438\u9396\u8907\u5408\u4f53\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u75c7\u72b6\u306f\u5c0f\u5150\u671f\u306b\u51fa\u73fe\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6210\u4eba\u767a\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u7b4b\u75c7\u72b6<\/strong><\/h3>\n\n\n\n
    \n
  • \u8fd1\u4f4d\u7b4b\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u6613\u75b2\u52b4\u611f<\/li>\n\n\n\n
  • \u904b\u52d5\u4e0d\u8010\u6027<\/li>\n\n\n\n
  • \u773c\u77bc\u4e0b\u5782\u3084\u5916\u773c\u7b4b\u9ebb\u75fa\uff08\u307e\u308c\uff09<\/li>\n<\/ul>\n\n\n\n

    \u8840\u6db2\u5b66\u7684\u7570\u5e38<\/strong><\/h3>\n\n\n\n
      \n
    • \u9244\u82bd\u7403\u6027\u8ca7\u8840<\/li>\n\n\n\n
    • \u6613\u75b2\u52b4\u3001\u52d5\u60b8\u3001\u606f\u5207\u308c<\/li>\n<\/ul>\n\n\n\n

      \u305d\u306e\u4ed6<\/strong><\/h3>\n\n\n\n
        \n
      • \u5fc3\u7b4b\u75c7<\/li>\n\n\n\n
      • \u4f4e\u8eab\u9577<\/li>\n\n\n\n
      • \u5185\u5206\u6ccc\u7570\u5e38\uff08\u7cd6\u5c3f\u75c5\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n

        \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n

        \u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

        1. \u81e8\u5e8a\u6240\u898b<\/strong><\/h3>\n\n\n\n
          \n
        • \u30df\u30aa\u30d1\u30c1\u30fc\u3068\u8ca7\u8840\u306e\u4f75\u5b58<\/li>\n<\/ul>\n\n\n\n

          2. \u8840\u6db2\u691c\u67fb<\/strong><\/h3>\n\n\n\n
            \n
          • \u5c0f\u7403\u6027\u307e\u305f\u306f\u6b63\u7403\u6027\u8ca7\u8840<\/li>\n\n\n\n
          • \u30d5\u30a7\u30ea\u30c1\u30f3\u6b63\u5e38\u301c\u9ad8\u5024<\/li>\n<\/ul>\n\n\n\n

            3. \u9aa8\u9ac4\u691c\u67fb<\/strong><\/h3>\n\n\n\n
              \n
            • \u74b0\u72b6\u9244\u82bd\u7403\u306e\u5b58\u5728<\/li>\n<\/ul>\n\n\n\n

              4. \u7b4b\u751f\u691c<\/strong><\/h3>\n\n\n\n
                \n
              • \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7570\u5e38\u6240\u898b<\/li>\n<\/ul>\n\n\n\n

                5. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/h3>\n\n\n\n
                  \n
                • PUS1\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad (PMC)<\/li>\n<\/ul>\n\n\n\n

                  \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

                  \u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

                    \n
                  • \u8f38\u8840\u7ba1\u7406<\/li>\n\n\n\n
                  • \u30d3\u30bf\u30df\u30f3B6\u88dc\u5145\uff08\u90e8\u5206\u53cd\u5fdc\u4f8b\u3042\u308a\uff09<\/li>\n\n\n\n
                  • \u5fc3\u6a5f\u80fd\u7ba1\u7406<\/li>\n\n\n\n
                  • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n
                  • \u611f\u67d3\u4e88\u9632<\/li>\n<\/ul>\n\n\n\n

                    \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

                    \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u9244\u82bd\u7403\u6027\u8ca7\u8840\uff08MLASA1\uff09\u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
                    Bykhovskaya Y et al. Missense mutation in PUS1 causes mitochondrial myopathy and sideroblastic anemia. Nat Genet. 2004.(Nature)
                    MLASA1 \u2014 GeneReviews, PubMed Central.(PMC)
                    Mitochondrial Myopathy and Sideroblastic Anemia \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122003","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\/122003","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122003\/revisions"}],"predecessor-version":[{"id":125280,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122003\/revisions\/125280"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122003"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}