{"id":5452,"date":"2025-12-26T10:06:35","date_gmt":"2025-12-26T01:06:35","guid":{"rendered":"https:\/\/readtrends.com\/ko\/nf1-ataluren-korea\/"},"modified":"2025-12-26T10:06:35","modified_gmt":"2025-12-26T01:06:35","slug":"nf1-ataluren-korea","status":"publish","type":"post","link":"https:\/\/readtrends.com\/ko\/nf1-ataluren-korea\/","title":{"rendered":"\uc2e0\uacbd\uc12c\uc720\uc885 1\ud615 \uc57d\ubb3c\uce58\ub8cc \uac00\ub2a5\uc131 \ud655\uc778"},"content":{"rendered":"<article>\n<h2>\ud575\uc2ec \uc694\uc57d<\/h2>\n<p>2025\ub144 12\uc6d4 26\uc77c \uc11c\uc6b8\uc544\uc0b0\ubcd1\uc6d0 \uc758\ud559\uc720\uc804\ud559\uc13c\ud130 \uc774\ubc94\ud76c \uad50\uc218\u00b7\uae40\uc18c\uc601 \uc5f0\uad6c\uc6d0\ud300\uc740 \ub10c\uc13c\uc2a4(nonsense) \ub3cc\uc5f0\ubcc0\uc774\ub97c \uac00\uc9c4 \uc2e0\uacbd\uc12c\uc720\uc885 1\ud615(NF1) \ud658\uc790 \uc720\ub798 \ud53c\ubd80\uc138\ud3ec\uc5d0 \uc544\ud0c8\ub8e8\ub80c(Ataluren)\uc744 \ucc98\ub9ac\ud55c \uacb0\uacfc \uc77c\ubd80 \uc138\ud3ec\uc5d0\uc11c \uc885\uc591 \uad00\ub828 \uc2e0\ud638(RAS\u00b7ERK) \uac10\uc18c\ub97c \ud655\uc778\ud574 \uc57d\ubb3c\uce58\ub8cc \uac00\ub2a5\uc131\uc744 \ucc98\uc74c\uc73c\ub85c \uc81c\uc2dc\ud588\ub2e4. \uc5f0\uad6c\uc5d0\ub294 \ud55c\uad6d\uc778 NF1 \ud658\uc790 22\uba85\uc758 \uc12c\uc720\uc544\uc138\ud3ec\uac00 \uc0ac\uc6a9\ub410\uace0, \uc57d 24%\uc758 \uc138\ud3ec\uc5d0\uc11c \uc0dd\uccb4\ud45c\uc9c0\uc790 \ubcc0\ud654\uc640 \uc2e0\ud638 \uc5b5\uc81c\uac00 \uad00\ucc30\ub410\ub2e4. \ub610\ud55c AMPD3\uc640 TGFBR3\uac00 \uc57d\ud6a8 \ubaa8\ub2c8\ud130\ub9c1 \ubc14\uc774\uc624\ub9c8\ucee4 \ud6c4\ubcf4\ub85c \uc81c\uc2dc\ub410\uace0, AMPD3 \uc5b5\uc81c\uac00 \uc288\ubc18 \uc138\ud3ec\uc758 \uc99d\uc2dd \uc5b5\uc81c\uc640 \uc138\ud3ec\uc0ac\uba78 \uc99d\uac00\ub97c \uc720\ub3c4\ud574 \uce58\ub8cc \ud45c\uc801\uc73c\ub85c\uc11c\uc758 \uac00\ub2a5\uc131\ub3c4 \ud655\uc778\ub410\ub2e4.<\/p>\n<h2>\ud575\uc2ec \uc0ac\uc2e4<\/h2>\n<ul>\n<li>\uc5f0\uad6c\uae30\uad00: \uc11c\uc6b8\uc544\uc0b0\ubcd1\uc6d0 \uc758\ud559\uc720\uc804\ud559\uc13c\ud130(\uc5f0\uad6c\ucc45\uc784\uc790 \uc774\ubc94\ud76c \uad50\uc218, \uc5f0\uad6c\uc6d0 \uae40\uc18c\uc601).<\/li>\n<li>\ub300\uc0c1\u00b7\ubc29\ubc95: \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\ub97c \uac00\uc9c4 \ud55c\uad6d\uc778 NF1 \ud658\uc790 22\uba85\uc73c\ub85c\ubd80\ud130 \uc12c\uc720\uc544\uc138\ud3ec\ub97c \ud655\ubcf4\ud574 in vitro\uc5d0\uc11c \uc544\ud0c8\ub8e8\ub80c \ucc98\ub9ac \ud6c4 \uc2e0\ud638 \ubc0f \uc804\uc0ac\uccb4(profiling)\ub97c \ubd84\uc11d.<\/li>\n<li>\uc8fc\uc694 \uacb0\uacfc: \uc804\uccb4 \uc138\ud3ec \uc911 \uc57d 24%\uc5d0\uc11c RAS \ubc0f ERK \uc2e0\ud638\uc758 \ube44\uc815\uc0c1\uc801 \uacfc\ud65c\uc131\ud654\uac00 \uac10\uc18c\ud574 \ub274\ub85c\ud30c\uc774\ube0c\ub85c\ubbfc \uae30\ub2a5\uc774 \ubd80\ubd84 \ud68c\ubcf5\ub41c \uc9d5\ud6c4 \uad00\ucc30.<\/li>\n<li>\ubc14\uc774\uc624\ub9c8\ucee4: \uc544\ud0c8\ub8e8\ub80c \ubc18\uc751 \uc138\ud3ec\uc5d0\uc11c\ub294 \ud608\uc561 \uae30\uc900 AMPD3\uc640 TGFBR3 \ub2e8\ubc31\uc9c8 \ub18d\ub3c4\uac00 \uac10\uc18c\ud574 \uc57d\ud6a8 \ubaa8\ub2c8\ud130\ub9c1 \ud6c4\ubcf4\ub85c \uc81c\uc2dc.<\/li>\n<li>\uc2e0\uaddc \ud45c\uc801: AMPD3 \uc5b5\uc81c\ub294 \ud658\uc790 \uc720\ub798 \uc288\ubc18 \uc138\ud3ec\uc5d0\uc11c ERK \uc2e0\ud638 \uc800\ud558, \uc138\ud3ec \uc99d\uc2dd \uc5b5\uc81c \ubc0f \uc138\ud3ec\uc0ac\uba78 \uc99d\uac00\ub97c \ubcf4\uc5ec \uce58\ub8cc \ud45c\uc801 \uac00\ub2a5\uc131 \ud655\uc778.<\/li>\n<li>\uc784\uc0c1\uc801 \ud568\uc758: NF1 \ud658\uc790\uc758 \uc57d 30%\ub294 \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\ub97c \ubcf4\uc720\ud55c\ub2e4\ub294 \uae30\uc874 \ud1b5\uacc4(\uc720\uc804\ud559\uc801 \ube44\uc728)\ub97c \uc7ac\ud655\uc778\ud558\uba70, \uc77c\ubd80 \ud658\uc790\uc5d0\uc11c \uc544\ud0c8\ub8e8\ub80c \uc801\uc6a9\uc774 \ud0c0\ub2f9\ud568\uc744 \uc2e4\ud5d8\uc801\uc73c\ub85c \uc81c\uc2dc.<\/li>\n<li>\uc9c0\uc6d0\u00b7\uac8c\uc7ac: \ud734\uba3c\uc2a4\ucf00\uc774\ud504\uc758 \ub808\uc5b4\ub178\ud2b8 \ud50c\ub7ab\ud3fc \uc9c0\uc6d0\uc744 \ubc1b\uc544 \uc218\ud589\ub410\uace0 \uacb0\uacfc\ub294 \ud559\uc220\uc9c0 MedComm \ucd5c\uc2e0\ud638\uc5d0 \uac8c\uc7ac.<\/li>\n<\/ul>\n<h2>\uc0ac\uac74 \ubc30\uacbd<\/h2>\n<p>\uc2e0\uacbd\uc12c\uc720\uc885 1\ud615(NF1)\uc740 NF1 \uc720\uc804\uc790 \uacb0\uc190 \ub610\ub294 \uae30\ub2a5\uc800\ud558\ub85c \ub274\ub85c\ud30c\uc774\ube0c\ub85c\ubbfc \ub2e8\ubc31\uc9c8\uc774 \ubd80\uc871\ud574\uc9c0\ub294 \uc9c8\ud658\uc73c\ub85c, \uc2e0\uacbd\uacc4\u00b7\ud53c\ubd80\u00b7\ubf08 \ub4f1 \uc5ec\ub7ec \uc7a5\uae30\uc5d0\uc11c \uc885\uc591\uacfc \ubc1c\uc721 \uc774\uc0c1\uc744 \uc720\ubc1c\ud55c\ub2e4. \ub274\ub85c\ud30c\uc774\ube0c\ub85c\ubbfc\uc740 RAS-MEK-ERK \uc2e0\ud638\ub97c \uc5b5\uc81c\ud574 \uc138\ud3ec\uc99d\uc2dd\uc744 \ud1b5\uc81c\ud558\ub294 \uc5ed\ud560\uc744 \ud558\ub294\ub370, \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\uac00 \uc788\uc73c\uba74 \uc870\uae30 \uc885\ub8cc \uc2e0\ud638\ub85c \ub2e8\ubc31\uc9c8 \uc0dd\uc131\uc774 \uc911\ub2e8\ub41c\ub2e4. \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\ub294 NF1 \ud658\uc790 \uc9d1\ub2e8\uc5d0\uc11c \uc57d 30%\ub97c \ucc28\uc9c0\ud558\ub294 \uac83\uc73c\ub85c \uc54c\ub824\uc838 \uc788\uc5b4, \ub10c\uc13c\uc2a4 \ud2b9\uc774 \uce58\ub8cc\ubc95 \uac1c\ubc1c\uc740 \ud658\uc790\uad70\uc758 \uc0c1\ub2f9 \ube44\uc728\uc5d0 \uc9c1\uc811\uc801 \uc601\ud5a5\uc744 \ubbf8\uce5c\ub2e4.<\/p>\n<p>\uc544\ud0c8\ub8e8\ub80c\uc740 \uc6d0\ub798 \uc720\uc804\uc131 \uc9c8\ud658\uc5d0\uc11c \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\ub85c \uc778\ud55c \uc870\uae30\uc885\uacb0\uc744 &#8216;\uac74\ub108\ub6f0\uac8c&#8217; \ud558\uc5ec \ub2e8\ubc31\uc9c8 \ud569\uc131\uc744 \uc77c\ubd80 \ud68c\ubcf5\uc2dc\ud0a4\ub294 \uc57d\ubb3c\ub85c \uac1c\ubc1c\u00b7\uc0ac\uc6a9\ub418\uc5b4 \uc654\ub2e4. \ub2e4\ub9cc NF1\ucc98\ub7fc RAS \uc2e0\ud638 \uacfc\ud65c\uc131\ud654\uac00 \ud575\uc2ec \ubcd1\ud0dc\uc778 \uc9c8\ud658\uc5d0\uc11c \uc544\ud0c8\ub8e8\ub80c\uc758 \ud6a8\ub2a5\uc740 \uae30\uc874\uc5d0 \uc784\uc0c1\uc801\u00b7\uc2e4\ud5d8\uc801\uc73c\ub85c \uba85\ud655\ud788 \uc99d\uba85\ub418\uc9c0 \uc54a\uc558\ub2e4. \uc774\ubc88 \uc5f0\uad6c\ub294 \ud658\uc790 \uc720\ub798 \uc138\ud3ec\ub97c \uc774\uc6a9\ud574 \uc57d\ubb3c \ubc18\uc751\uc131\uc744 \uc9c1\uc811 \ud3c9\uac00\ud568\uc73c\ub85c\uc368 &#8216;\uc57d\ubb3c \uc7ac\ud3ec\uc9c0\uc154\ub2dd(repositioning)&#8217; \uac00\ub2a5\uc131\uc744 \ud0d0\uc0c9\ud55c \uccab \uc0ac\ub840\uc5d0 \ud574\ub2f9\ud55c\ub2e4.<\/p>\n<h2>\uc8fc\uc694 \uc0ac\uac74<\/h2>\n<p>\uc5f0\uad6c\ud300\uc740 22\uba85\uc758 \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774 NF1 \ud658\uc790\uc5d0\uac8c\uc11c \ud53c\ubd80 \uc720\ub798 \uc12c\uc720\uc544\uc138\ud3ec\ub97c \ubd84\ub9ac\ud574 \uc544\ud0c8\ub8e8\ub80c\uc744 \ucc98\ub9ac\ud588\ub2e4. \ucc98\ub9ac \ud6c4 \uce21\uc815\uc5d0\uc11c \uc804\uccb4 \uc138\ud3ec \uc9d1\ub2e8\uc758 \uc57d 24%\uac00 RAS\u00b7ERK \uc2e0\ud638 \uac15\ub3c4\uc758 \uc720\uc758\ud55c \uac10\uc18c\ub97c \ubcf4\uc600\uace0, \uc774\ub294 \ub274\ub85c\ud30c\uc774\ube0c\ub85c\ubbfc\uc758 \uae30\ub2a5\uc774 \ubd80\ubd84\uc801\uc73c\ub85c \ud68c\ubcf5\ub418\uc5c8\uc74c\uc744 \uc2dc\uc0ac\ud55c\ub2e4. \ubc18\uc751\uc744 \ubcf4\uc778 \uc138\ud3ec\uc640 \ubcf4\uc774\uc9c0 \uc54a\uc740 \uc138\ud3ec\ub97c \uc804\uc0ac\uccb4 \uc218\uc900\uc5d0\uc11c \ube44\uad50 \ubd84\uc11d\ud574 \ubc18\uc751\uacfc \uc5f0\uad00\ub41c \ubd84\uc790\uc801 \ud45c\uc9c0\uc790\ub97c \ud0d0\uc0c9\ud588\ub2e4.<\/p>\n<p>\uc804\uc0ac\uccb4\u00b7\ub2e8\ubc31\uc9c8 \ubd84\uc11d \uacb0\uacfc, \uc544\ud0c8\ub8e8\ub80c\uc5d0 \ubc18\uc751\ud558\ub294 \uc138\ud3ec\uc5d0\uc11c\ub294 AMPD3\uc640 TGFBR3 \ub2e8\ubc31\uc9c8\uc774 \ud608\uc911 \uc218\uc900\uc5d0\uc11c \uac10\uc18c\ud558\ub294 \ud328\ud134\uc774 \uad00\ucc30\ub410\ub2e4. \uc5f0\uad6c\ud300\uc740 \uc774 \ub450 \ub2e8\ubc31\uc9c8\uc744 \uc57d\ud6a8 \ubaa8\ub2c8\ud130\ub9c1 \ubc14\uc774\uc624\ub9c8\ucee4 \ud6c4\ubcf4\ub85c \uc81c\uc2dc\ud558\uba70, \ud5a5\ud6c4 \ud658\uc790 \uae30\ubc18 \uc784\uc0c1\uc2dc\ud5d8\uc5d0\uc11c \ubc18\uc751\uad70 \uc120\ubcc4\uacfc \uc57d\ud6a8 \ucd94\uc801\uc5d0 \ud65c\uc6a9\ud560 \uc218 \uc788\uc74c\uc744 \uc81c\uc548\ud588\ub2e4.<\/p>\n<p>\ucd94\uac00 \uc2e4\ud5d8\uc5d0\uc11c AMPD3\ub97c \uc9c1\uc811 \uc5b5\uc81c\ud558\uc790 \ud658\uc790 \uc720\ub798 \uc288\ubc18 \uc138\ud3ec\uc5d0\uc11c ERK \uc2e0\ud638\uac00 \uc904\uc5b4\ub4e4\uace0 \uc138\ud3ec \uc99d\uc2dd\uc740 \uc5b5\uc81c\ub418\uba70 \uc138\ud3ec\uc0ac\uba78(\uc544\ud3fd\ud1a0\uc2dc\uc2a4)\uc740 \uc99d\uac00\ud588\ub2e4. \uc774 \uacb0\uacfc\ub294 AMPD3\uac00 NF1 \uad00\ub828 \uc885\uc591 \uc138\ud3ec \uc131\uc7a5\uc5d0 \uae30\uc5ec\ud560 \uac00\ub2a5\uc131\uc744 \ubcf4\uc5ec\uc8fc\uba70, \ud5a5\ud6c4 \uc57d\ubb3c \ud0c0\uae43 \ubc1c\uad74\ub85c \uc774\uc5b4\uc9c8 \uc218 \uc788\uc74c\uc744 \uc2dc\uc0ac\ud55c\ub2e4.<\/p>\n<h2>\ubd84\uc11d \ubc0f \uc758\ubbf8<\/h2>\n<p>\uccab\uc9f8, \ubcf8 \uc5f0\uad6c\ub294 \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\ub97c \ud45c\uc801\uc73c\ub85c \ud55c \uc57d\ubb3c\uce58\ub8cc\uc758 &#8216;\uae30\ucd08 \uadfc\uac70&#8217;\ub97c \uc81c\uacf5\ud588\ub2e4\ub294 \uc810\uc5d0\uc11c \uc758\uc758\uac00 \ud06c\ub2e4. NF1 \ud658\uc790\uc758 \uc0c1\ub2f9 \ubd80\ubd84\uc774 \ub10c\uc13c\uc2a4 \ubcc0\uc774\ub97c \uac16\ub294 \uc810\uc744 \uace0\ub824\ud558\uba74, \uc544\ud0c8\ub8e8\ub80c\uacfc \uac19\uc740 \ub10c\uc13c\uc2a4 \ub9ac\ub529\uc2a4\ub8e8(read-through) \uc57d\ubb3c\uc740 \ud2b9\uc815 \ud658\uc790\uad70\uc5d0 \uc2e4\uc9c8\uc801 \uce58\ub8cc \uc635\uc158\uc744 \ucd94\uac00\ud560 \uc218 \uc788\ub2e4. \ub2e4\ub9cc in vitro \uacb0\uacfc\uac00 \uace7\ubc14\ub85c \uc784\uc0c1\uc801 \ud6a8\uacfc\ub85c \uc5f0\uacb0\ub418\ub294 \uac83\uc740 \uc544\ub2c8\uba70, \uc804\uc2e0 \uc57d\ub3d9\ud559\u00b7\uc548\uc804\uc131\u00b7\uc870\uc9c1 \ud2b9\uc774\uc801 \uc804\ub2ec \ubb38\uc81c\ub97c \uac80\uc99d\ud560 \uc784\uc0c1\uc2dc\ud5d8\uc774 \ud544\uc694\ud558\ub2e4.<\/p>\n<p>\ub458\uc9f8, AMPD3\uc640 TGFBR3\uc758 \ud608\uc911 \ubcc0\ud654\ub294 \uce58\ub8cc \ubc18\uc751 \ubaa8\ub2c8\ud130\ub9c1\uc744 \uc704\ud55c \ube44\uce68\uc2b5\uc801 \ubc14\uc774\uc624\ub9c8\ucee4 \ud6c4\ubcf4\ub85c\uc11c \uc784\uc0c1 \uc801\uc6a9 \uac00\ub2a5\uc131\uc744 \uc5f4\uc5b4\uc900\ub2e4. \ubc14\uc774\uc624\ub9c8\ucee4\uac00 \ud655\ubcf4\ub418\uba74 \uc784\uc0c1\uc2dc\ud5d8\uc5d0\uc11c \ubc18\uc751\uc131 \uc608\uce21\uacfc \uc57d\ud6a8 \ucd94\uc801\uc758 \ud6a8\uc728\uc774 \ub192\uc544\uc838 \uc18c\uc218 \ud658\uc790\uad70 \ub300\uc0c1 \ub9de\ucda4\ud615 \uc784\uc0c1 \uc124\uacc4\uac00 \uc218\uc6d4\ud574\uc9c4\ub2e4.<\/p>\n<p>\uc14b\uc9f8, AMPD3\uac00 \uce58\ub8cc \ud45c\uc801\uc73c\ub85c\uc11c \ud655\uc778\ub41c \uc810\uc740 NF1 \uce58\ub8cc \uc804\ub7b5\uc744 \ud655\uc7a5\ud560 \uc218 \uc788\ub294 \ucd9c\ubc1c\uc810\uc774\ub2e4. \ud604\uc7ac NF1 \uad00\ub828 \uc57d\ubb3c \uac1c\ubc1c\uc740 RAS \uacbd\ub85c \ud558\uc704\uc758 MEK \uc5b5\uc81c\uc81c \ub4f1 \uc2e0\ud638\uacbd\ub85c \ucc28\ub2e8\uc5d0 \uce58\uc911\ud574 \uc788\ub294\ub370, AMPD3 \ud45c\uc801\ud654\ub294 \ub2e4\ub978 \uae30\uc804\uc758 \uce58\ub8cc\ubc95\uc744 \uc81c\uacf5\ud560 \uc218 \uc788\ub2e4. \ub2e4\ub9cc \uc548\uc804\uc131\u00b7\ud2b9\uc774\uc131\u00b7\uc57d\ubb3c\ud654 \uac00\ub2a5\uc131 \ub4f1 \ucd94\uac00 \uac80\uc99d\uc774 \ud544\uc694\ud558\ub2e4.<\/p>\n<h2>\ube44\uad50 \ubc0f \ub370\uc774\ud130<\/h2>\n<figure>\n<table>\n<thead>\n<tr>\n<th>\ud56d\ubaa9<\/th>\n<th>\uac12<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>NF1\uc5d0\uc11c \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774 \ube44\uc728<\/td>\n<td>\uc57d 30%<\/td>\n<\/tr>\n<tr>\n<td>\uc5f0\uad6c\uc5d0 \uc0ac\uc6a9\ub41c \ud658\uc790 \uc218<\/td>\n<td>22\uba85(\ud55c\uad6d\uc778, \uc12c\uc720\uc544\uc138\ud3ec \ucc44\ucde8)<\/td>\n<\/tr>\n<tr>\n<td>\uc544\ud0c8\ub8e8\ub80c \ubc18\uc751 \uc138\ud3ec \ube44\uc728<\/td>\n<td>\uc57d 24%<\/td>\n<\/tr>\n<\/tbody>\n<\/table><figcaption>\uc8fc\uc694 \uc218\uce58 \ube44\uad50: \uae30\uc874 \uc720\uc804\ud559 \ud1b5\uacc4\uc640 \ubcf8 \uc5f0\uad6c \uacb0\uacfc \uc694\uc57d.<\/figcaption><\/figure>\n<p>\uc704 \ud45c\ub294 \uae30\uc874 \uc720\uc804\ud559\uc801 \ubd84\ud3ec(\ub10c\uc13c\uc2a4 \ubcc0\uc774 \uc57d 30%)\uc640 \ubcf8 \uc5f0\uad6c\uc5d0\uc11c\uc758 \ubc18\uc751\ub960(\uc138\ud3ec \uc218\uc900 \uc57d 24%)\uc744 \ub300\uc870\ud574 \ubcf4\uc5ec\uc900\ub2e4. \uc911\uc694\ud55c \uc810\uc740 &#8216;\ud658\uc790 \uae30\ubc18 \uc138\ud3ec \uc2e4\ud5d8&#8217;\uc5d0\uc11c \uc77c\ubd80 \uc138\ud3ec\uad70\ub9cc \ubc18\uc751\uc744 \ubcf4\uc600\ub2e4\ub294 \uc0ac\uc2e4\ub85c, \uc774\ub294 \ud658\uc790 \ub0b4\u00b7\uac04 \uc774\uc9c8\uc131(heterogeneity)\uacfc \uc870\uc9c1 \ud2b9\uc774\uc801 \uc57d\ubb3c \ubc18\uc751\uc744 \ubc18\uc601\ud55c\ub2e4. \ub530\ub77c\uc11c \uc784\uc0c1 \uc801\uc6a9\uc744 \uc704\ud574\uc11c\ub294 \ud658\uc790 \uc120\ubcc4 \uae30\uc900\uacfc \uc57d\ubb3c \ud22c\uc5ec \ubc29\uc2dd\uc5d0 \ub300\ud55c \ucd94\uac00 \uc5f0\uad6c\uac00 \ud544\uc694\ud558\ub2e4.<\/p>\n<h2>\ubc18\uc751 \ubc0f \uc778\uc6a9<\/h2>\n<p>\uc5f0\uad6c\ud300\uacfc \uad00\ub828 \uae30\uad00\uc758 \uacf5\uc2dd\uc801 \ubc1c\uc5b8\uc740 \uc5f0\uad6c\uc758 \uc758\ubbf8\uc640 \ud55c\uacc4\ub97c \ud568\uaed8 \uc81c\uc2dc\ud588\ub2e4.<\/p>\n<blockquote>\n<p>&#8220;\uc774\ubc88 \uc5f0\uad6c\ub97c \ud1b5\ud574 \uc77c\ubd80 NF1 \ud658\uc790\uc5d0\uc11c \uc544\ud0c8\ub8e8\ub80c\uc758 \uce58\ub8cc \uac00\ub2a5\uc131\uc744 \ud655\uc778\ud588\ub2e4. \ub10c\uc13c\uc2a4 \ubcc0\uc774\ub97c \uac00\uc9c4 \ud658\uc790\uc5d0 \ub300\ud55c \ub9de\ucda4 \uce58\ub8cc \uc804\ub7b5 \ub9c8\ub828\uc5d0 \uae30\uc5ec\ud560 \uc218 \uc788\uc744 \uac83&#8221;<\/p>\n<p><cite>\uc774\ubc94\ud76c \uad50\uc218, \uc11c\uc6b8\uc544\uc0b0\ubcd1\uc6d0 \uc758\ud559\uc720\uc804\ud559\uc13c\ud130(\uc5f0\uad6c\ucc45\uc784\uc790)<\/cite><\/p><\/blockquote>\n<blockquote>\n<p>&#8220;\uc544\ud0c8\ub8e8\ub80c \ubc18\uc751\uacfc \uc5f0\uad00\ub41c \ud608\uc911 \ubc14\uc774\uc624\ub9c8\ucee4(AMPD3, TGFBR3)\ub97c \uc81c\uc2dc\ud574 \ud5a5\ud6c4 \uc784\uc0c1\uc2dc\ud5d8\uc5d0\uc11c \ud658\uc790 \uc120\ubcc4\uacfc \uc57d\ud6a8 \ubaa8\ub2c8\ud130\ub9c1\uc5d0 \ud65c\uc6a9\ub420 \uc218 \uc788\ub2e4.&#8221;<\/p>\n<p><cite>\uae40\uc18c\uc601 \uc5f0\uad6c\uc6d0, \uc5f0\uad6c\ud300<\/cite><\/p><\/blockquote>\n<blockquote>\n<p>&#8220;\uc774\ubc88 \uacb0\uacfc\ub294 \ucd08\uae30 \ub2e8\uacc4\uc758 \uc2e4\ud5d8 \uc99d\uac70\uc774\uba70, \uc804\uc784\uc0c1\u00b7\uc784\uc0c1 \uc5f0\uad6c\ub97c \ud1b5\ud574 \uc548\uc804\uc131\uacfc \uc720\ud6a8\uc131\uc744 \uac80\uc99d\ud574\uc57c \ud55c\ub2e4.&#8221;<\/p>\n<p><cite>\uc11c\uc6b8\uc544\uc0b0\ubcd1\uc6d0 \ubcf4\ub3c4\uc790\ub8cc(\uacf5\uc2dd)<\/cite><\/p><\/blockquote>\n<h2>\n<aside>\ubcf4\uc870 \ubaa8\ub4c8<\/aside>\n<\/h2>\n<details>\n<summary>\uc6a9\uc5b4\/\ubc29\ubc95\ub860<\/summary>\n<p>\ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774(nonsense mutation)\ub294 \uc720\uc804\uc790 \ucf54\ub4dc \ub0b4\uc5d0\uc11c \uc870\uae30 \uc885\uacb0 \uc2e0\ud638(stop codon)\ub97c \uc0dd\uc131\ud574 \ub2e8\ubc31\uc9c8 \uc804\ud569\uc131\uc744 \uc911\ub2e8\uc2dc\ud0a4\ub294 \ubcc0\uc774\ub2e4. \uc544\ud0c8\ub8e8\ub80c(Ataluren)\uc740 \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\ub85c \uc778\ud55c \uc870\uae30\uc885\uacb0\uc744 &#8216;\uc77d\uc5b4\ub118\uaca8(read-through)&#8217; \ub2e8\ubc31\uc9c8 \ud569\uc131\uc744 \ud68c\ubcf5\uc2dc\ud0a4\ub294 \uae30\uc804\uc744 \uac16\ub294\ub2e4. \uc12c\uc720\uc544\uc138\ud3ec\ub294 \ud53c\ubd80\u00b7\uadfc\ub9c9 \ub4f1 \uacb0\ud569\uc870\uc9c1\uc744 \uad6c\uc131\ud558\ub294 \uc138\ud3ec\ub85c, \ud658\uc790 \uc720\ub798 \uc12c\uc720\uc544\uc138\ud3ec\ub97c \uc774\uc6a9\ud55c in vitro \uc2e4\ud5d8\uc740 \uc720\uc804\uc801 \ubc30\uacbd\uc744 \ubcf4\uc874\ud55c \uc0c1\ud0dc\uc5d0\uc11c \uc57d\ubb3c \ubc18\uc751\uc744 \ud3c9\uac00\ud560 \uc218 \uc788\ub2e4. AMPD3\uc640 TGFBR3\ub294 \ubcf8 \uc5f0\uad6c\uc5d0\uc11c \uc57d\ud6a8 \ubc18\uc751\uacfc \uc5f0\uad00\ub41c \ub2e8\ubc31\uc9c8\ub85c \ubc1c\uacac\ub418\uc5c8\uc73c\uba70, \uc784\uc0c1 \ubc14\uc774\uc624\ub9c8\ucee4\ub85c \uc0ac\uc6a9\ub418\ub824\uba74 \ubbfc\uac10\ub3c4\u00b7\ud2b9\uc774\uc131 \uac80\uc99d\uc774 \ud544\uc694\ud558\ub2e4.<\/p>\n<\/details>\n<h2>\ubd88\ud655\uc2e4\ud55c \ubd80\ubd84<\/h2>\n<ul>\n<li>\uc138\ud3ec \uc218\uc900\uc758 \ubc18\uc751(\uc57d 24%)\uc774 \uc2e4\uc81c \ud658\uc790 \uc218\uc900\uc758 \uc784\uc0c1\uc801 \ud6a8\uacfc\ub85c \uc774\uc5b4\uc9c8\uc9c0 \uc5ec\ubd80\ub294 \ud655\uc778\ub418\uc9c0 \uc54a\uc558\ub2e4.<\/li>\n<li>\uc544\ud0c8\ub8e8\ub80c\uc758 \uccb4\ub0b4 \uc804\ub2ec\uc131\u00b7\uc870\uc9c1 \ud2b9\uc774\uc131\u00b7\uc7a5\uae30 \uc548\uc804\uc131 \ub4f1\uc740 \ubcf8 \uc5f0\uad6c\uc5d0\uc11c \uac80\uc99d\ub418\uc9c0 \uc54a\uc558\ub2e4.<\/li>\n<li>AMPD3\u00b7TGFBR3\uc758 \ud608\uc911 \uac10\uc18c\uac00 \uc784\uc0c1\uc801 \uc608\ud6c4 \uac1c\uc120\uacfc \uc9c1\uc811\uc801\uc73c\ub85c \uc5f0\uad00\ub418\ub294\uc9c0 \uc5ec\ubd80\ub294 \ucd94\uac00 \uc5f0\uad6c\uac00 \ud544\uc694\ud558\ub2e4.<\/li>\n<\/ul>\n<h2>\ucd1d\ud3c9<\/h2>\n<p>\uc774\ubc88 \uc5f0\uad6c\ub294 \ub10c\uc13c\uc2a4 \ub3cc\uc5f0\ubcc0\uc774\ub97c \uac00\uc9c4 NF1 \ud658\uc790 \uc9d1\ub2e8\uc5d0\uc11c \uc544\ud0c8\ub8e8\ub80c\uc774 \uc77c\ubd80 \uc138\ud3ec \uc218\uc900\uc5d0\uc11c \ub274\ub85c\ud30c\uc774\ube0c\ub85c\ubbfc \uae30\ub2a5 \ud68c\ubcf5 \uc2e0\ud638\uc640 \uc885\uc591 \uc2e0\ud638 \uc5b5\uc81c\ub97c \uc720\ub3c4\ud560 \uc218 \uc788\uc74c\uc744 \ucd5c\ucd08\ub85c \ubcf4\uc5ec\uc900 \uc810\uc5d0\uc11c \uc758\uc758\uac00 \uc788\ub2e4. \ud2b9\ud788 \ud608\uc911 \ubc14\uc774\uc624\ub9c8\ucee4 \ud6c4\ubcf4\uc640 AMPD3\uc758 \uc7a0\uc7ac\uc801 \uce58\ub8cc \ud0c0\uae43 \uc81c\uc2dc\ub294 \ud5a5\ud6c4 \ub9de\ucda4\ud615 \uc784\uc0c1\uc2dc\ud5d8 \uc124\uacc4\uc758 \ucd9c\ubc1c\uc810\uc744 \uc81c\uacf5\ud55c\ub2e4.<\/p>\n<p>\ub2e4\ub9cc \ud604\uc7ac \uc99d\uac70\ub294 in vitro \uc2e4\ud5d8\uc5d0 \uae30\ubc18\ud55c \ucd08\uae30 \ub2e8\uacc4 \uacb0\uacfc\ub85c, \uc804\uc784\uc0c1 \ub3d9\ubb3c\ubaa8\ub378\uacfc \uc778\uac04 \ub300\uc0c1 \uc784\uc0c1\uc2dc\ud5d8\uc744 \ud1b5\ud574 \uc548\uc804\uc131\u00b7\uc720\ud6a8\uc131\uc744 \uc5c4\uaca9\ud788 \uac80\uc99d\ud574\uc57c \ud55c\ub2e4. \uc5f0\uad6c \uacb0\uacfc\ub294 \ud658\uc790 \uc120\ubcc4 \uae30\uc900\uacfc \ubc14\uc774\uc624\ub9c8\ucee4 \ud65c\uc6a9\ubc95\uc744 \uc815\uad50\ud654\ud560 \uacbd\uc6b0 NF1 \uce58\ub8cc \ud328\ub7ec\ub2e4\uc784\uc744 \ud655\uc7a5\ud560 \uc218 \uc788\ub294 \uc2e4\ub9c8\ub9ac\ub97c \uc81c\uacf5\ud55c\ub2e4.<\/p>\n<h2>\ucd9c\ucc98<\/h2>\n<ul>\n<li><a href=\"https:\/\/www.edaily.co.kr\/News\/Read?newsId=02187766642402456&#038;mediaCodeNo=257\" target=\"_blank\" rel=\"noopener\">\uc774\ub370\uc77c\ub9ac \ubcf4\ub3c4: \uc2e0\uacbd\uc12c\uc720\uc885 1\ud615 \uc57d\ubb3c\uce58\ub8cc \uac00\ub2a5\uc131 \ud655\uc778<\/a> (\uc5b8\ub860 \ubcf4\ub3c4)<\/li>\n<li><a href=\"https:\/\/www.amc.seoul.kr\/asan\/kr\/\" target=\"_blank\" rel=\"noopener\">\uc11c\uc6b8\uc544\uc0b0\ubcd1\uc6d0 \uacf5\uc2dd \ud648\ud398\uc774\uc9c0(\uc758\ud559\uc720\uc804\ud559\uc13c\ud130 \ubcf4\ub3c4\uc790\ub8cc)<\/a> (\uacf5\uc2dd \ubc1c\ud45c)<\/li>\n<li><a href=\"https:\/\/www.medcommjournal.com\/\" target=\"_blank\" rel=\"noopener\">MedComm \uc800\ub110<\/a> (\ud559\uc220\uc9c0)<\/li>\n<li><a href=\"https:\/\/humanscape.co\/\" target=\"_blank\" rel=\"noopener\">\ud734\uba3c\uc2a4\ucf00\uc774\ud504(\ub808\uc5b4\ub178\ud2b8 \ud50c\ub7ab\ud3fc)<\/a> (\uc5f0\uad6c\uc9c0\uc6d0 \uae30\uad00)<\/li>\n<\/ul>\n<\/article>\n","protected":false},"excerpt":{"rendered":"<p>\ud575\uc2ec \uc694\uc57d 2025\ub144 12\uc6d4 26\uc77c \uc11c\uc6b8\uc544\uc0b0\ubcd1\uc6d0 \uc758\ud559\uc720\uc804\ud559\uc13c\ud130 \uc774\ubc94\ud76c \uad50\uc218\u00b7\uae40\uc18c\uc601 \uc5f0\uad6c\uc6d0\ud300\uc740 \ub10c\uc13c\uc2a4(nonsense) \ub3cc\uc5f0\ubcc0\uc774\ub97c \uac00\uc9c4 \uc2e0\uacbd\uc12c\uc720\uc885 1\ud615(NF1) \ud658\uc790 \uc720\ub798 \ud53c\ubd80\uc138\ud3ec\uc5d0 \uc544\ud0c8\ub8e8\ub80c(Ataluren)\uc744 \ucc98\ub9ac\ud55c \uacb0\uacfc \uc77c\ubd80 \uc138\ud3ec\uc5d0\uc11c \uc885\uc591 \uad00\ub828 \uc2e0\ud638(RAS\u00b7ERK) \uac10\uc18c\ub97c \ud655\uc778\ud574 \uc57d\ubb3c\uce58\ub8cc \uac00\ub2a5\uc131\uc744 \ucc98\uc74c\uc73c\ub85c \uc81c\uc2dc\ud588\ub2e4. \uc5f0\uad6c\uc5d0\ub294 \ud55c\uad6d\uc778 NF1 \ud658\uc790 22\uba85\uc758 \uc12c\uc720\uc544\uc138\ud3ec\uac00 \uc0ac\uc6a9\ub410\uace0, \uc57d 24%\uc758 \uc138\ud3ec\uc5d0\uc11c \uc0dd\uccb4\ud45c\uc9c0\uc790 \ubcc0\ud654\uc640 \uc2e0\ud638 \uc5b5\uc81c\uac00 \uad00\ucc30\ub410\ub2e4. \ub610\ud55c AMPD3\uc640 TGFBR3\uac00 \uc57d\ud6a8 \ubaa8\ub2c8\ud130\ub9c1 \ubc14\uc774\uc624\ub9c8\ucee4 \ud6c4\ubcf4\ub85c \uc81c\uc2dc\ub410\uace0, &#8230; <a title=\"\uc2e0\uacbd\uc12c\uc720\uc885 1\ud615 \uc57d\ubb3c\uce58\ub8cc \uac00\ub2a5\uc131 \ud655\uc778\" class=\"read-more\" href=\"https:\/\/readtrends.com\/ko\/nf1-ataluren-korea\/\" aria-label=\"\uc2e0\uacbd\uc12c\uc720\uc885 1\ud615 \uc57d\ubb3c\uce58\ub8cc \uac00\ub2a5\uc131 \ud655\uc778\uc5d0 \ub300\ud574 \ub354 \uc790\uc138\ud788 \uc54c\uc544\ubcf4\uc138\uc694\">\ub354 \uc77d\uae30<\/a><\/p>\n","protected":false},"author":1,"featured_media":5451,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"rank_math_title":"\uc2e0\uacbd\uc12c\uc720\uc885 1\ud615 \uc57d\ubb3c\uce58\ub8cc \uac00\ub2a5\uc131 \ud655\uc778 \u2014 \ub9de\ucda4\uce58\ub8cc \uadfc\uac70 \ud655\ubcf4 | \ub274\uc2a4\ub9ac\ud3ec\ud2b8","rank_math_description":"\uc11c\uc6b8\uc544\uc0b0\ubcd1\uc6d0 \uc5f0\uad6c\ud300\uc774 \ub10c\uc13c\uc2a4 \ubcc0\uc774 NF1 \ud658\uc790 \uc720\ub798 \uc138\ud3ec\uc5d0 \uc544\ud0c8\ub8e8\ub80c\uc744 \uc801\uc6a9\ud574 \uc885\uc591 \uc2e0\ud638 \uc5b5\uc81c\uc640 \ubc14\uc774\uc624\ub9c8\ucee4(AMPD3\u00b7TGFBR3) \ud6c4\ubcf4\ub97c \ud655\uc778, \ub9de\ucda4\uce58\ub8cc \uac00\ub2a5\uc131\uc744 \uc81c\uc2dc\ud588\ub2e4.","rank_math_focus_keyword":"\uc2e0\uacbd\uc12c\uc720\uc8851\ud615,NF1,\uc544\ud0c8\ub8e8\ub80c,\ub10c\uc13c\uc2a4\ub3cc\uc5f0\ubcc0\uc774,AMPD3","footnotes":""},"categories":[2],"tags":[],"class_list":["post-5452","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-top-stories"],"_links":{"self":[{"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/posts\/5452","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/comments?post=5452"}],"version-history":[{"count":0,"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/posts\/5452\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/media\/5451"}],"wp:attachment":[{"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/media?parent=5452"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/categories?post=5452"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/readtrends.com\/ko\/wp-json\/wp\/v2\/tags?post=5452"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}