{"id":52990,"date":"2024-11-08T04:59:24","date_gmt":"2024-11-08T03:59:24","guid":{"rendered":"https:\/\/www.invarena.cz\/?p=52990"},"modified":"2024-11-08T04:59:29","modified_gmt":"2024-11-08T03:59:29","slug":"cesti-vedci-popsali-mutaci-genu-ktera-zpusobuje-alzheimera","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=52990","title":{"rendered":"\u010ce\u0161t\u00ed v\u011bdci popsali mutaci genu, kter\u00e1 zp\u016fsobuje \u201ealzheimera\u201c"},"content":{"rendered":"\n

Je to prvn\u00ed krok k tomu, aby mohl vzniknout l\u00e9k<\/em><\/p>\n\n\n\n

Praha, 7. 11. 2024 \u2013 \u010ce\u0161t\u00ed v\u011bdci popsali mutaci genu, kter\u00e1 zp\u016fsobuje Alzheimerovu nemoc. Objev by m\u011bl v budoucnu v\u00e9st k v\u00fdvoji l\u00e9k\u016f nebo terapeutick\u00fdch metod, kter\u00e9 by vzplanut\u00ed nemoci zabr\u00e1nily nebo jej\u00ed rozvoj alespo\u0148 zbrzdily. O objevu v\u011bdci diskutovali na 2. v\u00fdro\u010dn\u00ed konferenci N\u00e1rodn\u00edho \u00fastavu pro neurologick\u00fd v\u00fdzkum.<\/strong><\/p>\n\n\n\n

V \u010cesku trp\u00ed demenc\u00ed p\u0159ibli\u017en\u011b 150 000 lid\u00ed, z toho 60 % m\u00e1 \u201ealzheimera\u201c. Odborn\u00edci odhaduj\u00ed, \u017ee v roce 2050 bude nemocn\u00fdch a\u017e o 30 % v\u00edce. Celosv\u011btov\u011b postihuje Alzheimerova choroba t\u00e9m\u011b\u0159 t\u0159etinu populace ve v\u011bku 85 let a v\u00edce. Na porozum\u011bn\u00ed p\u0159\u00ed\u010din nemoci a n\u00e1sledn\u00e9 l\u00e9\u010db\u011b proto pracuj\u00ed stovky v\u00fdzkumn\u00fdch t\u00fdm\u016f po cel\u00e9m sv\u011bt\u011b. Tomu \u010desk\u00e9mu \u2013 v\u00fdzkumn\u00e9 skupin\u011b pod veden\u00edm D\u00e1\u0161i Boha\u010diakov\u00e9 z \u00dastavu histologie a embryologie L\u00e9ka\u0159sk\u00e9 fakulty Masarykovy univerzity \u2013 se poda\u0159ilo popsat mutaci genu SORL1. Na v\u00fdzkumu \u00fazce spolupracovali s kolegy z Aarhusk\u00e9 univerzity v D\u00e1nsku.<\/p>\n\n\n\n

\u201eMutace s ozna\u010den\u00edm p.Y1816C naru\u0161uje funkci proteinu, kter\u00fd je pro recyklaci b\u00edlkovin v bu\u0148k\u00e1ch, a tedy pro spr\u00e1vn\u00e9 fungov\u00e1n\u00ed mozku, nezbytn\u00fd. Pokud je vadn\u00fd, pak m\u00e1 jeho nositel 100% riziko vzniku Alzheimerovy nemoci \u2013 a to i kolem 60. roku v\u011bku. Mutace je d\u011bdi\u010dn\u00e1,\u201c<\/em> vysv\u011btluje Mgr. D\u00e1\u0161a Boha\u010diakov\u00e1, Ph.D. Gen SORL1 je mezi t\u011bmi ostatn\u00edmi, o nich\u017e se v\u00ed, \u017ee zp\u016fsobuj\u00ed Alzheimerovu nemoc, nov\u00e1\u010dkem. Zat\u00edmco zkoum\u00e1n\u00ed \u201etradi\u010dn\u00edch alzheimerovsk\u00fdch gen\u016f\u201c, jako jsou nap\u0159\u00edklad APP nebo PSEN1 \u010di PSEN2, prob\u00edh\u00e1 u\u017e des\u00edtky let, SORL1 je na \u201estole\u201c v\u011bdc\u016f teprve kr\u00e1tce. \u201eGen SORL1 m\u00e1 stovky dal\u0161\u00edch mutac\u00ed, v\u011bt\u0161inou ne\u0161kodn\u00fdch, dlouho jej proto nikdo moc nestudoval. Pak je zde ale skupina, kter\u00e1 s sebou nese vysok\u00e9 riziko vzniku nemoci. My jsme prozkoumali variantu, kter\u00e1 pro nositele bohu\u017eel znamen\u00e1 100 % jistotu, \u017ee se u n\u011bj choroba d\u0159\u00edve \u010di pozd\u011bji objev\u00ed. P\u0159esn\u00e9 zji\u0161t\u011bn\u00ed a popis, co v mozku tato mutace d\u011bl\u00e1, pak vede ke zkoum\u00e1n\u00ed, jak proces zastavit nebo obej\u00edt. Nap\u0159\u00edklad vadn\u00fd gen opravit nebo vyvinout l\u00e9k na zpomalen\u00ed postupu onemocn\u011bn\u00ed,\u201c <\/em>vysv\u011btluje v\u011bdkyn\u011b. Ona a jej\u00ed t\u00fdm s kolegy v D\u00e1nsku pokra\u010duj\u00ed ve v\u00fdzkumu dal\u0161\u00edch genov\u00fdch variant. \u201ePro v\u00fdvoj \u00fa\u010dinn\u00e9 l\u00e9\u010dby je z\u00e1sadn\u00ed um\u011bt varianty tohoto genu klasifikovat \u2013 a na tom pracuj\u00ed v\u011bdci z cel\u00e9ho sv\u011bta,\u201c<\/em> \u0159\u00edk\u00e1 dr. D\u00e1\u0161a Boha\u010diakov\u00e1. V\u00fdzkum choroby v \u010cesku prob\u00edh\u00e1 na kmenov\u00fdch bu\u0148k\u00e1ch, ze kter\u00fdch v\u011bdci vyp\u011bstuj\u00ed v laborato\u0159i lidsk\u00e9 neurony i tzv. \u201eminimoze\u010dky\u201c. Studii v\u011bdc\u016f publikoval presti\u017en\u00ed odborn\u00fd \u010dasopis Proceedings of the National Academy of Sciences.<\/em><\/em><\/p>\n\n\n\n

V\u011bdeck\u00fd \u0159editel <\/em>N\u00e1rodn\u00edho \u00fastavu pro neurologick\u00fd v\u00fdzkum prof. MUDr. Milan Br\u00e1zdil, Ph.D., FRCP, p\u0159ipom\u00edn\u00e1, \u017ee u\u017e nyn\u00ed existuj\u00ed l\u00e9ky, kter\u00e9 do budoucna slibuj\u00ed postup Alzheimerovy nemoci zbrzdit. <\/em>Jak neurolog uv\u00e1d\u00ed, Alzheimerova nemoc se vyv\u00edj\u00ed roky a\u017e des\u00edtky let bez typick\u00fdch p\u0159\u00edznak\u016f. P\u0159itom doch\u00e1z\u00ed ke ztr\u00e1t\u011b mozkov\u00e9 hmoty a odum\u00edraj\u00ed nervov\u00e9 bu\u0148ky. \u201eAlzheimer\u201c je v\u011bt\u0161inou nemoc\u00ed \u201estar\u00fdch lid\u00ed\u201c, ve v\u011bku nad 80 let postihuje ka\u017ed\u00e9ho p\u00e1t\u00e9ho. \u201eP\u0159esnou p\u0159\u00ed\u010dinu vzniku nezn\u00e1me. Ale v\u00edme, \u017ee vzplanut\u00ed nemoci m\u016f\u017ee urychlit nap\u0159\u00edklad vysok\u00fd cholesterol, cukrovka, nel\u00e9\u010den\u00fd vysok\u00fd krevn\u00ed tlak, poran\u011bn\u00ed hlavy, kou\u0159en\u00ed, osam\u011blost \u010di deprese,\u201c<\/em> uv\u00e1d\u00ed prof. Br\u00e1zdil, kter\u00fd je z\u00e1rove\u0148 p\u0159ednostou I. neurologick\u00e9 kliniky Fakultn\u00ed nemocnice u sv. Anny v Brn\u011b. Podle n\u011bj povedou nov\u00e9 pokroky ve v\u00fdzkumu k personalizovan\u00e9 (na m\u00edru \u0161it\u00e9) l\u00e9\u010db\u011b pacient\u016f. \u201e\u010c\u00edm v\u00edce budeme o nemoci v\u011bd\u011bt, t\u00edm l\u00e9pe zvol\u00edme l\u00e9\u010dbu, kter\u00e1 v ide\u00e1ln\u00edm p\u0159\u00edpad\u011b nemoci p\u0159edejde, p\u0159\u00edpadn\u011b ji zastav\u00ed,\u201c<\/em> dod\u00e1v\u00e1 l\u00e9ka\u0159.<\/p>\n\n\n\n

Prvn\u00ed zn\u00e1mkou Alzheimerovy choroby b\u00fdv\u00e1 obvykle m\u00edrn\u00e1 kognitivn\u00ed porucha v podob\u011b lehk\u00fdch pot\u00ed\u017e\u00ed s pam\u011bt\u00ed. Ta se m\u016f\u017ee objevit u\u017e kolem \u010dty\u0159ic\u00edtky. U \u010d\u00e1sti lid\u00ed p\u0159ejde v demenci. Mezi typick\u00e9 p\u0159\u00edznaky \u201ealzheimera\u201c pat\u0159\u00ed krom\u011b zapom\u00edn\u00e1n\u00ed tak\u00e9 dezorientace v prostoru a \u010dase, odkl\u00e1d\u00e1n\u00ed v\u011bc\u00ed na neobvykl\u00e1 m\u00edsta, neschopnost vyj\u00e1d\u0159it se \u010di pl\u00e1novat a postupn\u011b ztr\u00e1ta samostatnosti. Pozd\u011bji se p\u0159ipojuje nap\u0159\u00edklad agresivita, \u00fazkosti \u010di apatie.<\/p>\n\n\n\n

O Neur-INu<\/strong><\/p>\n\n\n\n

N\u00e1rodn\u00ed \u00fastav pro neurologick\u00fd v\u00fdzkum (National Institute for Neurological Research \u2013 NINR, nov\u011b Neur\u2011IN) je v\u00fdzkumn\u00e1 platforma propojuj\u00edc\u00ed 45 excelentn\u00edch neurologick\u00fdch t\u00fdm\u016f z jeden\u00e1cti p\u0159edn\u00edch v\u011bdeck\u00fdch instituc\u00ed v \u010cR. Jej\u00edm c\u00edlem je podpo\u0159it v\u00fdzkum p\u0159edev\u0161\u00edm neurodegenerativn\u00edch onemocn\u011bn\u00ed. Neurologick\u00e9 poruchy jsou nej\u010dast\u011bj\u0161\u00ed p\u0159\u00ed\u010dinou invalidity a druhou nej\u010dast\u011bj\u0161\u00ed p\u0159\u00ed\u010dinou \u00famrt\u00ed. V Neur-INu je zapojeno p\u0159es 250 preklinick\u00fdch i klinick\u00fdch v\u00fdzkumn\u00edk\u016f, kte\u0159\u00ed se pod\u00edl\u00ed na multidisciplin\u00e1rn\u00edm v\u00fdzkumu neurodegenerace u \u0159ady neurologick\u00fdch onemocn\u011bn\u00ed. Krom\u011b dvou notoricky zn\u00e1m\u00fdch neurodegenerativn\u00edch chorob s dramaticky nar\u016fstaj\u00edc\u00ed prevalenc\u00ed \u2013 Alzheimerovy a Parkinsonovy choroby \u2013 se institut v\u011bnuje i dal\u0161\u00edm neurologick\u00fdm onemocn\u011bn\u00edm, u nich\u017e hraje neurodegenerace v\u00fdznamnou roli (nap\u0159\u00edklad neurov\u00fdvojov\u00e1 onemocn\u011bn\u00ed, epilepsie, roztrou\u0161en\u00e1 skler\u00f3za). Posl\u00e1n\u00edm N\u00e1rodn\u00edho \u00fastavu pro neurologick\u00fd v\u00fdzkum je vyhled\u00e1v\u00e1n\u00ed pr\u016flomov\u00fdch poznatk\u016f o mozku a nervov\u00e9m syst\u00e9mu a jejich vyu\u017eit\u00ed ke sni\u017eov\u00e1n\u00ed z\u00e1t\u011b\u017ee neurologick\u00fdch onemocn\u011bn\u00ed a ke zlep\u0161en\u00ed kvality \u017eivota posti\u017een\u00e9 populace. V\u00edce informac\u00ed na https:\/\/www.ninr.cz<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"

Je to prvn\u00ed krok k tomu, aby mohl vzniknout l\u00e9k Praha, 7. 11. 2024 \u2013 \u010ce\u0161t\u00ed v\u011bdci popsali mutaci genu, kter\u00e1 zp\u016fsobuje Alzheimerovu nemoc. Objev by […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":14161,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-52990","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zdravi"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/52990","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=52990"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/52990\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/14161"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=52990"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=52990"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=52990"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}