{"id":9223,"date":"2023-04-24T08:28:00","date_gmt":"2023-04-23T23:28:00","guid":{"rendered":"http:\/\/www.itaya.or.jp\/?p=9223"},"modified":"2023-04-24T08:13:30","modified_gmt":"2023-04-23T23:13:30","slug":"%e3%83%9f%e3%83%88%e3%82%b3%e3%83%b3%e3%83%89%e3%83%aa%e3%82%a2%e3%81%ab%e3%81%a4%e3%81%84%e3%81%a6%e3%81%ae%e3%82%a2%e3%83%83%e3%83%97%e3%83%87%e3%83%bc%e3%83%884","status":"publish","type":"post","link":"https:\/\/www.itaya.or.jp\/?p=9223","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306b\u3064\u3044\u3066\u306e\u30a2\u30c3\u30d7\u30c7\u30fc\u30c84"},"content":{"rendered":"\n

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mtDNA\u306e\u7a81\u7136\u5909\u7570\u3068\u306e\u95a2\u9023\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b<\/span>\u304c\u3001\u3053\u3046\u3057\u305f\u75be\u60a3\u306e\u4e00\u90e8\u306f\u3001
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\u98fd\u548c\u8102\u80aa\u9178\u306e\u542b\u91cf\u304c\u5897\u52a0\u3059\u308b\u3068\u819c\u306e\u6027\u8cea\uff08\u6d41\u52d5\u6027\uff09\u304c\u5909\u5316\u3057
\u7d30\u80de\u6a5f\u80fd\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002

\u30e1\u30bf\u30dc\u30ea\u30c3\u30af\u30b7\u30f3\u30c9\u30ed\u30fc\u30e0\u30e2\u30c7\u30eb\u52d5\u7269\u3084
\u5fc3\u7b4b\u7d30\u80de\u7279\u7570\u7684\u306b\u8102\u80aa\u9178\u306e\u53d6\u8fbc\u3092\u5897\u3084\u3057\u305f\u907a\u4f1d\u5b50\u64cd\u4f5c\u30de\u30a6\u30b9\u306b\u304a\u3044\u3066\u3001
\u5fc3\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3044\u3046\u3002

\u30e9\u30fc\u30c9\u3092\u98df\u3079\u3055\u305b\u305f\u30de\u30a6\u30b9\u3067\u306f\u5fc3\u81d3\u306e\u62e1\u5f35\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u305f\u304c\u3001
\u30aa\u30ea\u30fc\u30d6\u30aa\u30a4\u30eb\u3067\u306f\u6a5f\u80fd\u4f4e\u4e0b\u306f\u3081\u3060\u305f\u306a\u304b\u3063\u305f\u3002


\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3068\u7cd6\u5c3f\u75c5<\/span>p.115\uff1a<\/span>
\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7cd6\u5c3f\u75c5maternally inherited diabetes and deafness\uff1aMIDD
\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u907a\u4f1d\u5b50\u306b\u5909\u7570\u3092\u8a8d\u3081\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u4f4e\u4e0b\u578b\u306e\u7cd6\u5c3f\u75c5
\u5358\u4e00\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u7cd6\u5c3f\u75c5\u306e\u4e2d\u3067\u6700\u3082\u9ad8\u983b\u5ea6
\u65e5\u672c\u4eba\u306e\u7cd6\u5c3f\u75c5\u306e1\uff05
\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA3243\u70b9\u5909\u7570

\u4f4e\u8eab\u9577\u3001\u3084\u305b
\u611f\u97f3\u6027\u96e3\u8074\u306e\u5408\u4f75\u7387\u306f92\uff05<\/span>
\u8133\u7b4b\u75c723.2\uff05\u3000MELAS\u309212.5\uff05\u3001\u7b4b\u840e\u7e2e\u30fb\u773c\u77bc\u4e0b\u5782\u30928.9\uff05\u306b\u8a8d\u3081\u308b\u3002

\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u306e\u5909\u7570\u306f\u5065\u5e38\u4eba\u306b\u304a\u3044\u3066\u3082\u52a0\u9f62\u306b\u5f93\u3063\u3066\u5f8c\u5929\u7684\u306b\u84c4\u7a4d\u3059\u308b\u3002


\u5375\u5b50\u8001\u5316\u3068\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/span>p.121\uff1a<\/span>
\u6392\u5375\u30fb\u53d7\u7cbe\u306a\u3069\u306e\u5375\u5b50\u306b\u304a\u3051\u308b\u8907\u96d1\u306a\u751f\u547d\u73fe\u8c61\u306b\u306f\u30a8\u30cd\u30eb\u30ae\u30fc\u304c\u5fc5\u8981\u3067\u3042\u308b\u304c\u3001
\u4e3b\u3068\u3057\u3066\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306b\u304a\u3051\u308b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u306b\u3088\u3063\u3066\u751f\u3058\u305fATP\u306b\u7531\u6765\u3059\u308b\u3002

\u5375\u5b50\u8001\u5316\u306e\u539f\u56e0\u3068\u3057\u3066\u306f\u3001
\u52a0\u9f62\u306b\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u306e\u4e0d\u5b89\u5b9a\u6027\u306b\u3088\u3063\u3066
\u5375\u7d30\u80de\u4e2d\u306b\u5909\u7570\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u304c\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3001
\u52a0\u9f62\u306b\u4f34\u3044\u5375\u7d30\u80de\u306b\u304a\u3051\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u9069\u6b63\u306a\u751f\u5408\u6210\u304c\u884c\u308f\u308c\u306a\u304f\u306a\u308b\u3053\u3068
\u304c\u63a8\u6e2c\u3055\u308c\u3066\u3044\u308b\u3002


\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306b\u304a\u3051\u308b\u30a4\u30aa\u30a6\u4ee3\u8b1d<\/span>p.127\uff1a
\u6700\u8fd1\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306b\u304a\u3051\u308b\u30a4\u30aa\u30a6\u4ee3\u8b1d\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u306b
\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306a\u306b\u306a\u3063\u305f\u3002
\u30b7\u30b9\u30c6\u30a4\u30f3\u306e\u30a4\u30aa\u30a6\u539f\u5b50\u304c\u4e00\u9023\u306e\u53cd\u5fdc\u3092\u7d4c\u3066\u53c2\u52a0\u3055\u308c\u308b\u3053\u3068\u304c\u3001
\u96fb\u5b50\u4f1d\u9054\u7cfb\u3068\u5171\u5f79\u3057\u3066\u304a\u308a\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u819c\u96fb\u4f4d\u306e\u7dad\u6301\u306b\u91cd\u8981\u3002

\u30b9\u30c8\u30ec\u30b9\u5fdc\u7b54\u3068\u30a4\u30aa\u30a6\u4ee3\u8b1d<\/span>
\u74b0\u5883\u5316\u5b66\u7269\u8cea\u3084\u98df\u54c1\u6dfb\u52a0\u7269\u3001\u571f\u58cc\u3084\u56de\u967d\u306e\u91cd\u91d1\u5c5e\u3001\u3055\u3089\u306b\u306f\u5927\u6c17\u4e2d\u306e\u9178\u7d20\u306a\u3069\u3001
\u751f\u4f53\u304c\u74b0\u5883\u304b\u3089\u88ab\u308b\u3055\u307e\u3056\u307e\u306a\u30b9\u30c8\u30ec\u30b9\u306e\u591a\u304f\u306f\u3001
\u751f\u4f53\u5206\u5b50\u306e\u9178\u5316\u9084\u5143\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001
\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30ab\u30eb\u30dc\u30cb\u30eb\u5316\u3001\u8102\u8cea\u306e\u904e\u9178\u5316\u3001
\u30c1\u30aa\u30fc\u30eb\u306e\u9178\u5316\u3084\u30a2\u30eb\u30ad\u30eb\u5316\u3068\u3044\u3063\u305f\u5f62\u3067\u751f\u4f53\u5206\u5b50\u306e\u6a5f\u80fd\u7684\u5909\u5316\u3092\u3082\u305f\u3089\u3059\u3002

\u3053\u3046\u3057\u305f\u975e\u9175\u7d20\u7684\u306a\u751f\u4f53\u5206\u5b50\u306e\u5909\u5316\u306b\u306f\u3001
\u751f\u4f53\u306b\u304a\u3051\u308b\u9178\u5316\u9084\u5143\u53cd\u5fdc\u306b\u304a\u3044\u3066
\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u30a4\u30aa\u30a6\u539f\u5b50\u304c\u304b\u304b\u308f\u308b\u5834\u5408\u304c\u591a\u3044\u3002<\/span>

\u751f\u4f53\u5185\u3067\u306e\u30a4\u30aa\u30a6\u4ee3\u8b1d\u306e\u7406\u89e3\u306f\u3001\u751f\u4f53\u306e\u74b0\u5883\u5fdc\u7b54\u3001
\u3072\u3044\u3066\u306f\u3001\u52a0\u9f62\u306b\u4f34\u3046\u751f\u4f53\u306e\u5909\u5316\u306e\u7406\u89e3\u306b\u6975\u3081\u3066\u91cd\u8981\u3067\u3042\u308b\u3002

\u5316\u5b66\u7684\u30db\u30eb\u30df\u30b7\u30b9\u52b9\u679c\u3068\u3082\u3044\u3046\u3079\u304d\u73fe\u8c61\uff1a
\u5f31\u3044\u9178\u5316\u5264\u3092\u3042\u3089\u304b\u3058\u3081\u6295\u4e0e\u3057\u3066\u304a\u304f\u3068\u3001
\u751f\u4f53\u306f\u5f37\u3044\u9178\u5316\u5264\u306b\u5bfe\u3057\u3066\u62b5\u6297\u6027\u3092\u7372\u5f97\u3057
\u7d30\u80de\u969c\u5bb3\u3084\u767a\u304c\u3093\u3068\u3044\u3063\u305f\u75c5\u614b\u3092\u4e88\u9632\u3067\u304d\u308b\u3002

\u3053\u306e\u9069\u5fdc\u306e\u9375\u304cKEAP1-NRF2\u5236\u5fa1\u7cfb
FRF2\u30fb\u30fb\u30fb\u5f37\u529b\u306a\u8ee2\u5199\u6d3b\u6027\u56e0\u5b50
KEAP1\u306f\u305d\u306e\u6291\u5236\u6027\u5236\u5fa1\u56e0\u5b50

\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u5206\u88c2\u6d3b\u6027\u306e\u5236\u5fa1p.89\u30fb\u30fb\u30fbDrp1\u30a4\u30aa\u30a6\u9396
\u74b0\u5883\u4e2d\u306b\u306f\u6709\u6a5f\u6c34\u9280\u3084\u30ab\u30c9\u30df\u30a6\u30e0\u306a\u3069\u3001
\u751f\u4f53\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3055\u307e\u3056\u307e\u306a\u89aa\u96fb\u5b50\u7269\u8cea\u304c\u5b58\u5728\u3059\u308b\u3002
\u74b0\u5883\u6c5a\u67d3\u7269\u8cea\u306e\u9577\u671f\u7684\u66b4\u9732\u306b\u3088\u3063\u3066
Drp1\u30bf\u30f3\u30d1\u30af\u8cea\u30dd\u30ea\u30a4\u30aa\u30a6\u9396\u306e<\/span>
\u30a4\u30aa\u30a6\u304c\u67af\u6e07\u3059\u308b\u3068\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5206\u88c2\u3092\u8a98\u767a<\/span>\u3057\u3001
\u8840\u884c\u529b\u5b66\u7684\u8ca0\u8377\u306b\u5bfe\u3059\u308b\u62b5\u6297\u6027\u3092\u6e1b\u5f31\u3055\u305b\u308b\u539f\u56e0\u3068\u306a\u308bp.90\u3002


\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u5206\u5b50\u75c5\u614b\u3068\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u54c1\u8cea\u7ba1\u7406\u306e\u7834\u7dbb<\/span>p.133\uff1a
\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u30fb\u30fb\u30fb\u4e2d\u8133\u9ed2\u8cea\u30c9\u30d1\u30df\u30f3\u795e\u7d4c\u7d30\u80de\u306e\u8131\u843d\u306b\u3088\u308a\u3001\u52d5\u4f5c\u304c\u9045\u304f\u306a\u308b\u3001
\u624b\u8db3\u304c\u9707\u3048\u308b\u306a\u3069\u306e\u75c7\u72b6\u304c\u51fa\u73fe\u3059\u308b\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306e\u4e00\u3064\u3002
\u3057\u304b\u3057\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u75c5\u5de3\u306f\u8133\u306b\u9650\u5c40\u3057\u305f\u3082\u306e\u3067\u306f\u306a\u304f\u5168\u8eab\u6027\u306e\u75be\u60a3<\/span>\u3002

2000\u5e74\u4ee3\u306b\u306a\u3063\u3066\u3001\u907a\u4f1d\u6027\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u7814\u7a76\u306f\u3081\u3056\u307e\u3057\u3044\u767a\u5c55\u3092\u9042\u3052\u308b\u3002
\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u7d0410\uff05\u306f\u907a\u4f1d\u6027\u3067\u3042\u308b\u304c\u3001
\u591a\u304f\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5358\u96e2\u3055\u308c\u75c5\u614b\u89e3\u660e\u306b\u5927\u304d\u304f\u8ca2\u732e\u3057\u3066\u304d\u305f\u3002

Parkin\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u767a\u898b\uff1a
Parkin\u306f\u819c\u96fb\u4f4d\u306e\u4f4e\u4e0b\u3057\u305f\u640d\u50b7\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3092\u8a8d\u8b58\u3057\u3001
\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u3092\u767a\u52d5\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001
\u795e\u7d4c\u7d30\u80de\u5185\u306e\u54c1\u8cea\u7ba1\u7406\uff08\u640d\u50b7\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30af\u30ea\u30a2\u30e9\u30f3\u30b9\uff09\u306b\u8ca2\u732e\u3057\u3066\u3044\u308b\u3002

\u7d30\u80de\u5185\u3067\u306f\u640d\u50b7\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u5206\u89e3\u6a5f\u69cb\u304c\u5099\u308f\u3063\u3066\u3044\u308b\u304c\u3001
PINK1\u3084Parkin\u306e\u5909\u7570\u306b\u3088\u308b\u6a5f\u80fd\u4e0d\u5168\u306f\u30de\u30a4\u30c8\u30d5\u30a1\u30b8\u30fc\u306e\u7834\u7dbb\u3092\u6765\u3057\u3001
\u640d\u50b7\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u84c4\u7a4d\u304c\u7d30\u80de\u6b7b\u3092\u5f15\u304d\u8d77\u3053\u3059<\/span>\u3068\u63a8\u6e2c\u3055\u308c\u308b\u3002


\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\uff08ALS)\u306b\u304a\u3051\u308bMAM\u306e\u7834\u7dbb<\/span>p.138\uff1a
ALS
\u904b\u52d5\u795e\u7d4c\u7d30\u80de\uff08\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u304c\u9078\u629e\u90b8\u306b\u5909\u6027\u3057\u3001\u8131\u843d\u3057\u3001
\u9032\u884c\u6027\u306e\u9ebb\u75fa\u3068\u7b4b\u840e\u7e2e\u3092\u5448\u3059\u308b\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3002
\u672c\u90a6\u306b\u304a\u3051\u308b\u6709\u75c5\u73879.9\u4eba\uff0f\u4e07\u4eba\u3000\u7f79\u60a3\u73872.2\u4eba\uff0f10\u4e07\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3001
\u5e74\u95932000\u4eba\u304c\u767a\u75c7\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002

\u591a\u304f\u306f\u5b64\u767a\u4f8b\u3060\u304c10\uff05\u306b\u5bb6\u65cf\u6027\u767a\u75c7\u3042\u308a\u3002
\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u306625\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002
\u30b9\u30fc\u30d1\u30fc\u30aa\u30ad\u30b7\u30c9\u30b8\u30b9\u30e0\u30bf\u30fc\u30bc\uff08SOD\uff09\u3092\u30b3\u30fc\u30c9\u3059\u308b
SOD1\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/span>\u304c\u65e5\u672c\u3067\u306f\u591a\u3044\u3002
\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3068\u5c0f\u80de\u4f53\u304c\u5909\u7570SOD1\u306b\u3088\u3063\u3066\u6a5f\u80fd\u4e0d\u5168\u3092\u304a\u3053\u3059\u3002
\u2193
\u6700\u8fd1\u306b\u306a\u3063\u3066\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3068\u5c0f\u80de\u4f53\u304c\u63a5\u3059\u308b
MAM\uff08mitochondria-associated membrane\uff09\u306e \u6a5f\u80fd\u7684\u30fb\u69cb\u9020\u7684\u7834\u7dbb\u304c
ALS\u306e\u75c5\u614b\u306b\u6df1\u304f\u95a2\u4e0e\u3059\u308b<\/span>\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u3055\u308c\u3064\u3064\u3042\u308b\u3002

\u9577\u304f\u306a\u3063\u3066\u304d\u305f\u306e\u3067\u7d9a\u304d\u306f\u6b21\u56de\u3002



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