{"id":6191,"date":"2026-05-11T13:43:37","date_gmt":"2026-05-11T04:43:37","guid":{"rendered":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/?page_id=6191"},"modified":"2026-10-02T11:56:52","modified_gmt":"2026-10-02T02:56:52","slug":"research","status":"publish","type":"page","link":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/research\/","title":{"rendered":"RESEARCH"},"content":{"rendered":"[vc_section type=&#8221;full_width_content&#8221; flex_justify_content_tablet=&#8221;flex-end&#8221; flex_gap_desktop=&#8221;&#8221; text_color=&#8221;dark&#8221; background_image=&#8221;7439&#8243; background_image_type=&#8221;default&#8221; background_image_position=&#8221;center top&#8221; background_image_loading=&#8221;default&#8221; advanced_gradient=&#8221;linear-gradient(180deg, rgba(0,0,0,0) 0%, rgba(52,66,174,255) 100%)&#8221; advanced_gradient_angle=&#8221;180&#8243; advanced_gradient_opacity=&#8221;0.5&#8243; advanced_gradient_opacity_hover=&#8221;0&#8243; 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text=&#8221;RESEARCH CONTENTS&#8221; use_theme_fonts=&#8221;yes&#8221; css=&#8221;&#8221;][split_line_heading line_reveal_by_space_text_effect=&#8221;default&#8221; font_style=&#8221;h5&#8243; content_alignment=&#8221;default&#8221; mobile_content_alignment=&#8221;inherit&#8221; animation_type=&#8221;line-reveal-by-space&#8221; link_target=&#8221;_self&#8221; text_content=&#8221;\u7814\u7a76\u5185\u5bb9&#8221; text_direction=&#8221;default&#8221;][\/split_line_heading][vc_column_text css=&#8221;.vc_custom_1790762085287{padding-top: 2% !important;}&#8221; text_direction=&#8221;default&#8221;]\u533b\u5b66\u90e8\u306e\u7814\u7a76\u5ba4\u3068\u3057\u3066\u3001\u6211\u3005\u306f\u3001Curiosity-driven\u306a\u57fa\u790e\u7814\u7a76\u3068\u3001Patient-driven\u306a\u6a4b\u6e21\u3057\u7814\u7a76\u3068\u306e\u4e21\u7acb\u3092\u76ee\u6307\u3057\u30013\u4eba\u306e\u6559\u5ba4\u30b9\u30bf\u30c3\u30d5\u3068\u56fd\u5185\u5916\u3068\u306e\u5e45\u5e83\u3044\u5171\u540c\u7814\u7a76\u3067\u3001\u81e8\u5e8a\u907a\u4f1d\u5b66(clinical genetics)\u30fb\u795e\u7d4c\u79d1\u5b66\u30fb\u514d\u75ab\u5b66\u30fb\u7cfb\u7d71\u767a\u751f\u5b66\u306b\u307e\u305f\u304c\u3063\u305f\u5206\u91ce\u6a2a\u65ad\u7684\u57fa\u790e\u7814\u7a76\u3068\u3001\u81e8\u5e8a\u7814\u7a76\u30fb\u898f\u5236\u533b\u5b66\u30fbELSI\u9818\u57df\u306b\u307e\u305f\u304c\u3063\u305f\u5305\u62ec\u7684\u306a\u81e8\u5e8a\u7814\u7a76\u3068\u306b\u3088\u308b\u3001\u6a4b\u6e21\u3057\u7814\u7a76\u3068\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u75be\u60a3\u9818\u57df\u306b\u306f\u7279\u306b\u3053\u3060\u308f\u3089\u305a\u6d3b\u52d5\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u73fe\u72b6\u3067\u306f\u3001\u8074\u899a\u3001\u96e3\u8074\u907a\u4f1d\u3001\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3001\u300c\u898b\u305f\u76ee\u3068\u30a8\u30a4\u30b8\u30f3\u30b0\u300d\u3092\u4e3b\u306b\u6d3b\u52d5\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u30d6\u30ec\u30a4\u30af\u30b9\u30eb\u30fc\u306f\u5883\u754c\u9818\u57df\u304b\u3089\u751f\u307e\u308c\u308b\u3068\u4fe1\u3058\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u7406\u5ff5\u30fb\u6d3b\u52d5\u306b\u5171\u9cf4\u3059\u308b\u3042\u3089\u3086\u308b\u5206\u91ce\u306e\u7814\u7a76\u8005\u3068\u306e\u5171\u540c\u7814\u7a76\u3092\u3001\u5e83\u304f\u52df\u96c6\u3057\u3066\u304a\u308a\u307e\u3059\u3002<\/p>\n<p>\u6a4b\u6e21\u3057\u7814\u7a76\u306b\u304a\u3044\u3066\u306f\u3001\u57fa\u790e\u7814\u7a76\u304b\u3089\u306e\u8996\u70b9\u306e\u307f\u306a\u3089\u305a\u3001\u81e8\u5e8a\u73fe\u5834\u306b\u304a\u3051\u308b\u30cb\u30fc\u30ba\u3092\u5927\u5207\u306b\u3057\u3066\u3044\u307e\u3059\u3002\u6559\u5ba4\u4e3b\u5bb0\u8005\u3067\u3042\u308b\u85e4\u5ca1\u306e\uff12\uff10\u5e74\u6765\u306e\u7d4c\u9a13\u3068\u77e5\u8b58\u3092\u30d9\u30fc\u30b9\u3068\u3057\u3066\u3001\u6a4b\u6e21\u3057\u306e\u6280\u8853\u306b\u3064\u3044\u3066\u306f\u300c\u57fa\u672c\u306b\u5fe0\u5b9f\u300d\u3092\u5927\u539f\u5247\u3068\u3057\u3066\u304a\u308a\u3001\u81e8\u5e8a\u7684\u306b\u610f\u7fa9\u306e\u3042\u308b\u30a8\u30f3\u30c9\u30dd\u30a4\u30f3\u30c8\uff08clinically meaningful endpoint\uff09\u3092\u51fa\u767a\u70b9\u3068\u3057\u305fTPP\uff08Target Product Profile\uff09\u306e\u8a2d\u5b9a\u3001\u30de\u30fc\u30b1\u30c3\u30c8\u8a55\u4fa1\u3068\u305d\u306e\u30c7\u30b6\u30a4\u30f3\u3001\u30d3\u30b8\u30cd\u30b9\u8996\u70b9\uff08\u30ea\u30fc\u30f3\u30ad\u30e3\u30f3\u30d0\u30b9\u69cb\u7bc9\u3084\u7af6\u5408\u5206\u6790\u306a\u3069\uff09\u3068ELSI\u8996\u70b9\u3001\u305d\u3057\u3066\u4f55\u3088\u308a\u60a3\u8005\u3055\u3093\u306b\u5bc4\u308a\u6dfb\u3063\u305f\u75be\u60a3\u3068\u75c5\u306b\u60a9\u3080\u4eba\u30fb\u5f53\u4e8b\u8005\u30fb\u4f34\u8d70\u8005\u306e\u58f0\u3092\u3001\u5408\u7406\u7684\u304b\u3064\u60c5\u71b1\u7684\u306b\u300c\u3054\u3063\u305f\u716e\u300d\u306b\u3057\u3066\u3001\u57fa\u790e\u304b\u3089\u5fdc\u7528\u3001\u81e8\u5e8a\u7814\u7a76\u307e\u3067\u3092\u4e00\u6c17\u901a\u8cab\u306b\u63a8\u9032\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u306e\u77e5\u8ca1\u6226\u7565\uff08\u7279\u8a31\u3068\u30ce\u30a6\u30cf\u30a6\u3001\u4f53\u5236\u69cb\u7bc9\u3068\u5951\u7d04\u4ea4\u6e09\uff09\u306f\u3001\u5927\u5b66\u6cd5\u4eba\u81e8\u5e8a\u7814\u7a76\u63a8\u9032\u30bb\u30f3\u30bf\u30fc\u304a\u3088\u3073\u7523\u5b66\u9023\u643a\u77e5\u8ca1\u63a8\u9032\u672c\u90e8\u3068\u306e\u7dca\u5bc6\u306a\u9023\u643a\u4f53\u5236\u3092\u6577\u3044\u3066\u81e8\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n<p><strong>\u4f01\u696d\u3068\u306e\u5171\u540c\u7814\u7a76<\/strong><br 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column_border_width=&#8221;none&#8221; column_border_style=&#8221;solid&#8221; column_padding_type=&#8221;default&#8221; content_layout=&#8221;default&#8221; gradient_type=&#8221;default&#8221;][divider line_type=&#8221;No Line&#8221; custom_height=&#8221;55vh&#8221; custom_height_tablet=&#8221;40vh&#8221; custom_height_phone=&#8221;300px&#8221;][\/vc_column_inner][vc_column_inner column_padding=&#8221;no-extra-padding&#8221; column_padding_tablet=&#8221;inherit&#8221; column_padding_phone=&#8221;inherit&#8221; column_padding_position=&#8221;all&#8221; column_element_direction_desktop=&#8221;default&#8221; column_element_spacing=&#8221;default&#8221; desktop_text_alignment=&#8221;default&#8221; tablet_text_alignment=&#8221;default&#8221; phone_text_alignment=&#8221;default&#8221; background_color_opacity=&#8221;1&#8243; background_hover_color_opacity=&#8221;1&#8243; column_backdrop_filter=&#8221;none&#8221; font_color=&#8221;#FFFFFF&#8221; column_shadow=&#8221;none&#8221; column_border_radius=&#8221;none&#8221; column_link_target=&#8221;_self&#8221; overflow=&#8221;visible&#8221; gradient_direction=&#8221;left_to_right&#8221; overlay_strength=&#8221;0.3&#8243; width=&#8221;1\/2&#8243; tablet_width_inherit=&#8221;default&#8221; animation_type=&#8221;default&#8221; bg_image_animation=&#8221;none&#8221; border_type=&#8221;simple&#8221; column_border_width=&#8221;none&#8221; column_border_style=&#8221;solid&#8221; column_padding_type=&#8221;default&#8221; content_layout=&#8221;default&#8221; gradient_type=&#8221;default&#8221;][vc_column_text css_animation=&#8221;none&#8221; css=&#8221;.vc_custom_1778557614294{margin-bottom: 20px !important;}&#8221; text_direction=&#8221;default&#8221;]\n<h3><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084mRNA\u533b\u85ac\u306e\u65b0\u898f\u30e2\u30c0\u30ea\u30c6\u30a3\u7814\u7a76<\/strong><\/h3>\n[\/vc_column_text][vc_column_text css=&#8221;&#8221; text_direction=&#8221;default&#8221;]\u30bb\u30f3\u30c8\u30e9\u30eb\u30c9\u30b0\u30de\u306b\u76f4\u63a5\u4f5c\u7528\u3059\u308b\u533b\u85ac\u54c1\u306f\u6982\u3057\u3066\u52b9\u679c\u91cf\u304c\u5927\u304d\u304f\u3001\u907a\u4f1d\u6027\u75be\u60a3\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u69d8\u3005\u306a\u75be\u60a3\u3067\u9769\u65b0\u7684\u533b\u85ac\u54c1\u3092\u3082\u305f\u3089\u3057\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u5f53\u6559\u5ba4\u3067\u306f\u3001\u30ca\u30ce\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u99c6\u4f7f\u3057\u3001AAV\u30d9\u30af\u30bf\u30fc\u3084mRNA\u533b\u85ac\u306e\u65b0\u898f\u30c9\u30e9\u30c3\u30b0\u30c7\u30ea\u30d0\u30ea\u30fc\u30c4\u30fc\u30eb\u3084\u62c5\u4f53\u306e\u958b\u767a\u7814\u7a76\u3092\u9032\u3081\u308b\u3068\u3068\u3082\u306b\u3001\u65b0\u898f\u907a\u4f1d\u5b50\u7de8\u96c6\u6280\u8853\u306e\u767a\u660e\u30fb\u767a\u898b\u306b\u5411\u3051\u305f\u57fa\u790e\u7684\u63a2\u7d22\u7814\u7a76\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002\u6771\u4eac\u8fb2\u5de5\u5927\u3084\u6176\u5927\u7406\u5de5\u3001\u6148\u533b\u5927\u518d\u751f\u7814\u306a\u3069\u3068\u306e\u30a2\u30ab\u30c7\u30df\u30a2\u9593\u3067\u306e\u5883\u754c\u9818\u57df\u9023\u643a\u3084\u3001\u4f01\u696d\u3068\u306e\u7523\u5b66\u9023\u643a\u3092\u7a4d\u6975\u7684\u306b\u63a8\u3057\u9032\u3081\u308b\u3068\u3068\u3082\u306b\u3001\u3053\u308c\u3089\u306e\u7814\u7a76\u304c\u9045\u6ede\u306a\u304f\u793e\u4f1a\u5b9f\u88c5\u3078\u5411\u304b\u3048\u308b\u3088\u3046\u306b\u3001\u8cc7\u91d1\u9700\u8981\u306e\u5927\u304d\u3044\u7814\u7a76\u30c6\u30fc\u30de\u306b\u3064\u3044\u3066\u306f\u3001\u79d8\u5bc6\u4fdd\u6301\u5951\u7d04\u4e0b\u3067\u30d9\u30f3\u30c1\u30e3\u30fc\u30ad\u30e3\u30d4\u30bf\u30eb\u306a\u3069\u306e\u6295\u8cc7\u7b4b\u3084\u56fd\u5185\u5916\u88fd\u85ac\u4f01\u696d\u3068\u5b9a\u671f\u7684\u306b\u9023\u643a\u3057\u3001TPP\u30d9\u30fc\u30b9\u3067\u306e\u7814\u7a76\u9818\u57df\u7b56\u5b9a\u3068\u4fa1\u5024\u5275\u9020\u3092\u5fc3\u304c\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u203bTPP: Target Product Profile\u306e\u7565[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner column_margin=&#8221;default&#8221; column_direction=&#8221;default&#8221; column_direction_tablet=&#8221;default&#8221; column_direction_phone=&#8221;default&#8221; top_padding=&#8221;5%&#8221; text_align=&#8221;left&#8221; row_position=&#8221;default&#8221; row_position_tablet=&#8221;inherit&#8221; row_position_phone=&#8221;inherit&#8221; overflow=&#8221;visible&#8221; pointer_events=&#8221;all&#8221; el_id=&#8221;research2&#8243;][vc_column_inner column_padding=&#8221;no-extra-padding&#8221; column_padding_tablet=&#8221;inherit&#8221; column_padding_phone=&#8221;inherit&#8221; column_padding_position=&#8221;all&#8221; column_element_direction_desktop=&#8221;default&#8221; column_element_spacing=&#8221;default&#8221; desktop_text_alignment=&#8221;default&#8221; tablet_text_alignment=&#8221;default&#8221; phone_text_alignment=&#8221;default&#8221; background_color_opacity=&#8221;1&#8243; background_hover_color_opacity=&#8221;1&#8243; background_image=&#8221;6218&#8243; background_image_position=&#8221;center center&#8221; background_image_stacking=&#8221;default&#8221; enable_bg_scale=&#8221;true&#8221; background_image_loading=&#8221;default&#8221; column_backdrop_filter=&#8221;none&#8221; column_shadow=&#8221;none&#8221; column_border_radius=&#8221;10px&#8221; column_link_target=&#8221;_self&#8221; overflow=&#8221;visible&#8221; gradient_direction=&#8221;left_to_right&#8221; overlay_strength=&#8221;0.5&#8243; width=&#8221;1\/2&#8243; tablet_width_inherit=&#8221;default&#8221; animation_type=&#8221;default&#8221; bg_image_animation=&#8221;none&#8221; parallax_bg=&#8221;true&#8221; parallax_bg_speed=&#8221;fast&#8221; border_type=&#8221;simple&#8221; column_border_width=&#8221;none&#8221; column_border_style=&#8221;solid&#8221; column_padding_type=&#8221;default&#8221; content_layout=&#8221;default&#8221; gradient_type=&#8221;default&#8221;][divider line_type=&#8221;No Line&#8221; custom_height=&#8221;55vh&#8221; custom_height_tablet=&#8221;40vh&#8221; custom_height_phone=&#8221;300px&#8221;][\/vc_column_inner][vc_column_inner column_padding=&#8221;no-extra-padding&#8221; column_padding_tablet=&#8221;inherit&#8221; column_padding_phone=&#8221;inherit&#8221; column_padding_position=&#8221;all&#8221; column_element_direction_desktop=&#8221;default&#8221; column_element_spacing=&#8221;default&#8221; desktop_text_alignment=&#8221;default&#8221; tablet_text_alignment=&#8221;default&#8221; phone_text_alignment=&#8221;default&#8221; background_color_opacity=&#8221;1&#8243; background_hover_color_opacity=&#8221;1&#8243; column_backdrop_filter=&#8221;none&#8221; font_color=&#8221;#FFFFFF&#8221; column_shadow=&#8221;none&#8221; column_border_radius=&#8221;none&#8221; column_link_target=&#8221;_self&#8221; overflow=&#8221;visible&#8221; gradient_direction=&#8221;left_to_right&#8221; overlay_strength=&#8221;0.3&#8243; width=&#8221;1\/2&#8243; tablet_width_inherit=&#8221;default&#8221; animation_type=&#8221;default&#8221; bg_image_animation=&#8221;none&#8221; border_type=&#8221;simple&#8221; column_border_width=&#8221;none&#8221; column_border_style=&#8221;solid&#8221; column_padding_type=&#8221;default&#8221; content_layout=&#8221;default&#8221; gradient_type=&#8221;default&#8221;][vc_column_text css_animation=&#8221;none&#8221; css=&#8221;.vc_custom_1790766354265{margin-bottom: 20px !important;}&#8221; text_direction=&#8221;default&#8221;]\n<h3>\u7a00\u5c11\u907a\u4f1d\u6027\u75be\u60a3\u306b\u5bfe\u3059\u308biPS\u5275\u85ac\u30fb\u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76<\/h3>\n[\/vc_column_text][vc_column_text css=&#8221;&#8221; text_direction=&#8221;default&#8221;]\u5f53\u7814\u7a76\u5ba4\u3067\u306f\u3053\u308c\u307e\u3067\u306b\u96e3\u8074\u9818\u57df\u3092\u4e2d\u5fc3\u306b\u30015\u75be\u60a390\u30e9\u30a4\u30f3\u5f37\u306e\u75be\u60a3\u7279\u7570\u7684iPS\u7d30\u80de\u3092\u6709\u3057\uff08\u2192\u304a\u554f\u3044\u5408\u308f\u305b\u306f<a href=\"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/contact\/\" target=\"_blank\" rel=\"noopener\">\u3053\u3061\u3089<\/a>\uff09\u3001\u5206\u5316\u8a98\u5c0e\u6cd5\u3084\u75be\u60a3\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u7814\u7a76\u304b\u3089\u65e9\u671f\u81e8\u5e8a\u7814\u7a76\u307e\u3067\u306e\u57fa\u790e\u30fb\u81e8\u5e8a\u4e00\u4f53\u578b\u7814\u7a76\u3092\u9032\u3081\u3066\u307e\u3044\u308a\u307e\u3057\u305f\u3002\u3053\u308c\u3089\u306e\u904e\u53bb\u306e\u7d4c\u9a13\u3068\u5b9f\u7e3e\u3092\u6d3b\u7528\u3057\u3001\u73fe\u5728\u3067\u306f\u3001\u5317\u91cc\u5927\u5b66\u75c5\u9662\u81e8\u5e8a\u7814\u7a76\u63a8\u9032\u30bb\u30f3\u30bf\u30fc\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u30c8\u30e9\u30f3\u30b9\u30ec\u30fc\u30b7\u30e7\u30ca\u30eb\u7814\u7a76\u62e0\u70b9\u3084\u5404\u81e8\u5e8a\u79d1\uff08\u907a\u4f1d\u8a3a\u7642\u90e8\uff1a\u9ad8\u7530\u53f2\u7537\u6559\u6388\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u30fb\u982d\u9838\u90e8\u5916\u79d1\uff1a\u6817\u5ca1\u9686\u81e3\u3001\u5c71\u4e0b\u62d3\u4e21\u6559\u6388 \u306a\u3069\uff09\u3001\u56fd\u5185\u5916\u306e\u88fd\u85ac\u4f01\u696d\u306a\u3069\u3068\u9023\u643a\u3092\u3057\u306a\u304c\u3089\u3001\u672c\u90a6\u306e\u533b\u85ac\u54c1\u958b\u767a\u4f53\u5236\u306e\u7279\u8272\u30fb\u7279\u9577\u3082\u8003\u616e\u3057\u3064\u3064\u3001\u5e45\u5e83\u3044\u75be\u60a3\u9818\u57df\u3067\u30a2\u30f3\u30e1\u30c3\u30c8\u30cb\u30fc\u30ba\u306b\u7279\u5316\u3057\u305f\u7814\u7a76\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p><strong>Pendred\u75c7\u5019\u7fa4\/DFNB4<\/strong><br \/>\n\u6176\u61c9\u5927\u5b66\u6642\u4ee3\u306b\u3001\u60a3\u8005\u7531\u6765iPS\u7d30\u80de\u3092\u7528\u3044\u305f\u7814\u7a76\u3092\u884c\u3063\u3066\u307e\u3044\u308a\u307e\u3057\u305f\u3002\u5317\u91cc\u5927\u5b66\u75c5\u9662\/\u5317\u91cc\u7814\u7a76\u6240\u75c5\u9662\u306b\u304a\u3051\u308b\u7279\u5b9a\u81e8\u5e8a\u7814\u7a76\u3092\u7d4c\u3066\u3001\u73fe\u5728\u3067\u306f\u3053\u306e\u6a4b\u6e21\u3057\u7814\u7a76\u306e\u5c0e\u51fa\u5148\u3067\u3042\u308b\u30ce\u30fc\u30d9\u30eb\u30d5\u30a1\u30fc\u30de\u682a\u5f0f\u4f1a\u793e\u306b\u3088\u308a\u3001\u56fd\u969b\u7b2c\uff13\u76f8\u8a66\u9a13\u3092\u6e96\u5099\u3057\u3066\u304a\u308a\u307e\u3059\uff08<a href=\"https:\/\/www.nobelpharma.co.jp\/research\/pipeline\/\" target=\"_blank\" rel=\"noopener\">\u30ce\u30fc\u30d9\u30eb\u30d5\u30a1\u30fc\u30de\u682a\u5f0f\u4f1a\u793e \u958b\u767a\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3<\/a>\uff09\u3002<\/p>\n<p><strong>DFNA10\/EYA4\u95a2\u9023\u96e3\u8074<\/strong><br \/>\n\u4e16\u754c\u306eGWAS\u7814\u7a76\u3067\u96e3\u8074\u3068\u4e00\u5869\u57fa\u591a\u578b\uff08SNP\uff09*1\u306e\u76f8\u95a2\u304c\u5831\u544a\u3055\u308c\u3066\u304d\u3066\u3044\u308bEYA4\u907a\u4f1d\u5b50\u306b\u6ce8\u76ee\u3057\u3001\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8*2\u3092\u6709\u3059\u308b\u907a\u4f1d\u6027\u96e3\u8074\uff08DFNA10\uff09\u306e\u60a3\u8005\u69d8\u306e\u672b\u68a2\u8840\u304b\u3089iPS\u7d30\u80de\u3092\u4f5c\u88fd\u3057*3\u3001iPS\u5275\u85ac\u3068\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u958b\u767a\u7814\u7a76\u3092\u9032\u3081\u3066\u304a\u308a\u307e\u3059\u3002<\/p>\n<p><strong>DFNA78<br \/>\n<\/strong>\u5f53\u6559\u5ba4\u306e\u52d9\u53f0\u8b1b\u5e2b\u304c\u4e16\u754c\u306b\u5148\u99c6\u3051\u3066\u767a\u898b\u3057\u305f\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\u306e\u975e\u75c7\u5019\u7fa4\u6027\u96e3\u8074\uff08DFNA78\uff09\u306f\u3001 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href=\"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7205\/\">\u8ad6\u6587\u306e\u7d39\u4ecb\u52d5\u753b<\/a>\uff09\u3002<\/p>\n<p><strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u30fb\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u907a\u4f1d\u6027\u96e3\u8074<\/strong><br \/>\nMT-TL1 m.3243A&gt;G\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u6709\u3059\u308bMELAS(\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5)\u3084\u3001MT-RNR1 m.1555A&gt;G\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u95a2\u9023\u3059\u308b\u975e\u75c7\u5019\u6027\u96e3\u8074\u3092\u5bfe\u8c61\u3068\u3057\u3066\u3001\u60a3\u8005\u7531\u6765iPS\u7d30\u80de\u3092\u7528\u3044\u305f\u7814\u7a76\u3092\u9032\u3081\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306eiPS\u7d30\u80de\u304b\u3089\u8133\u30aa\u30eb\u30ac\u30ce\u30a4\u30c9\u304a\u3088\u3073\u5185\u8033\u30aa\u30eb\u30ac\u30ce\u30a4\u30c9\u3092\u4f5c\u88fd\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u7570\u5e38\u304c\u795e\u7d4c\u7cfb\u3084\u5185\u8033\u306b\u53ca\u307c\u3059\u5f71\u97ff\u3092\u89e3\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u7d44\u7e54\u7279\u7570\u7684\u306a\u75c5\u614b\u5f62\u6210\u6a5f\u5e8f\u306e\u89e3\u660e\u3068\u3001\u65b0\u305f\u306a\u6cbb\u7642\u85ac\u5019\u88dc\u306e\u63a2\u7d22\u30fb\u958b\u767a\u3092\u76ee\u6307\u3057\u3066\u3044\u307e\u3059\uff08\u2192<a href=\"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7206\/\">\u8133\u30aa\u30eb\u30ac\u30ce\u30a4\u30c9\u4f5c\u88fd\u6cd5\u306e\u7d39\u4ecb\u52d5\u753b<\/a>\uff09\u3002<\/p>\n<p>*1 \u4e00\u5869\u57fa\u591a\u578b\uff08SNP\uff09\uff1aDNA\u914d\u5217\u306e\u3046\u30611\u5869\u57fa\u3060\u3051\u304c\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u90e8\u4f4d\u3002EYA4\u306eSNP\u3068\u52a0\u9f62\u6027\u96e3\u8074\u3068\u306e\u95a2\u9023\u306f\u3001\u5927\u898f\u6a21GWAS\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08Hoffmann TJ, et al. <a href=\"https:\/\/doi.org\/10.1371\/journal.pgen.1006371\" target=\"_blank\" rel=\"noopener\">PLoS Genet. 2016;12(10):e1006371<\/a>\uff09\u3002<br \/>\n*2 \u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\uff1a\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3002EYA4\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u304cDFNA10\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u306f Wayne S, et al. <a href=\"https:\/\/doi.org\/10.1093\/hmg\/10.3.195\" target=\"_blank\" rel=\"noopener\">Hum Mol Genet. 2001;10(3):195-200<\/a> \u3067\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002<br \/>\n*3 Saegusa C, et al. <a href=\"https:\/\/doi.org\/10.1016\/j.scr.2024.103489\" target=\"_blank\" rel=\"noopener\">Stem Cell Res. 2024;79:103489<\/a>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner column_margin=&#8221;default&#8221; column_direction=&#8221;default&#8221; column_direction_tablet=&#8221;default&#8221; column_direction_phone=&#8221;default&#8221; top_padding=&#8221;5%&#8221; text_align=&#8221;left&#8221; row_position=&#8221;default&#8221; row_position_tablet=&#8221;inherit&#8221; row_position_phone=&#8221;inherit&#8221; overflow=&#8221;visible&#8221; pointer_events=&#8221;all&#8221; el_id=&#8221;research3&#8243;][vc_column_inner column_padding=&#8221;no-extra-padding&#8221; column_padding_tablet=&#8221;inherit&#8221; column_padding_phone=&#8221;inherit&#8221; 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