{"id":2610,"date":"2021-09-20T06:11:49","date_gmt":"2021-09-20T04:11:49","guid":{"rendered":"https:\/\/www.hvezdarna.cz\/sveduvedu\/?p=2610"},"modified":"2021-09-20T06:14:15","modified_gmt":"2021-09-20T04:14:15","slug":"2610-2","status":"publish","type":"post","link":"https:\/\/www.hvezdarna.cz\/sveduvedu\/2610-2\/","title":{"rendered":"Na stop\u011b vym\u00fdcen\u00ed d\u011bdi\u010dn\u00e9 leuk\u00e9mie"},"content":{"rendered":"<p>Ve t\u0159et\u00edm d\u00edle po\u0159adu Svedu v\u011bdu v\u00e1s Tom\u00e1\u0161 Matonoha sezn\u00e1m\u00ed s\u00a0Jakubem Leke\u0161em, kter\u00fd ve sv\u00e9m \u017eivot\u011b svedl t\u011b\u017ek\u00fd boj s&nbsp;akutn\u00ed\u00a0leuk\u00e9mi\u00ed. Dnes \u017eije tento p\u011btadvacetilet\u00fd mlad\u00edk \u017eivot tak, jak m\u00e1 \u017eivot mlad\u00e9ho \u010dlov\u011bka vypadat. V\u011bnuje se folkloru, hraje hokej pro z\u00e1bavu a&nbsp;ryba\u0159\u00ed.<\/p>\n<p><iframe loading=\"lazy\" title=\"Svedu v\u011bdu | 03 | z\u00e1zra\u010dn\u00ed v\u011bdci z&nbsp;CEITEC\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/bQq1G4Ea1kI?start=122&#038;feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture\" allowfullscreen><\/iframe><\/p>\n<p>Jakou roli v\u00a0z\u00e1chran\u011b jeho \u017eivota sehr\u00e1li brn\u011bn\u0161t\u00ed l\u00e9ka\u0159i a&nbsp;v\u011bdci? A&nbsp;m\u016f\u017ee v\u00fdzkum genetik\u016f ze St\u0159edoevropsk\u00e9ho technologick\u00e9ho institutu a&nbsp;l\u00e9ka\u0159sk\u00e9 fakulty Masarykovy univerzity pomoci i&nbsp;dal\u0161\u00edm pacient\u016fm, kte\u0159\u00ed trp\u00ed stejnou nemoc\u00ed? Sledujte s\u00a0n\u00e1mi pokra\u010dov\u00e1n\u00ed nev\u011bdeck\u00e9ho po\u0159adu o&nbsp;v\u011bd\u011b pod taktovkou Hv\u011bzd\u00e1rny a&nbsp;planet\u00e1ria Brno.<\/p>\n<p>\u201eV patn\u00e1cti letech mi l\u00e9ka\u0159i ozn\u00e1mili, \u017ee trp\u00edm akutn\u00ed lymfoblastickou leuk\u00e9mi\u00ed. Musel jsem podstoupit l\u00e9\u010dbu chemoterapi\u00ed a&nbsp;p\u0159eru\u0161it dev\u00e1tou t\u0159\u00eddu. Pak jsem musel studovat d\u00e1lkov\u011b. Tehdy se zd\u00e1lo, \u017ee se poda\u0159ilo nemoc vyl\u00e9\u010dit,\u201c za\u010d\u00edn\u00e1 vypr\u00e1v\u011bt sv\u016fj p\u0159\u00edb\u011bh Jakub Leke\u0161 z\u00a0Uhersk\u00e9ho Hradi\u0161t\u011b.<\/p>\n<p>Bohu\u017eel tento \u00fasp\u011bch v\u0161ak zdaleka neznamenal \u0161\u0165astn\u00fd konec. Na jedn\u00e9 z\u00a0dal\u0161\u00edch kontrol l\u00e9ka\u0159i zjistili, \u017ee se mu nemoc ne\u010dekan\u011b vr\u00e1tila a&nbsp;\u017ee je nutn\u00e9 naj\u00edt d\u00e1rce kostn\u00ed d\u0159en\u011b. \u201eMoje cesta k\u00a0hled\u00e1n\u00ed vhodn\u00e9ho d\u00e1rce v\u0161ak byla je\u0161t\u011b zdlouhav\u00e1. Musel jsem proto p\u0159eru\u0161it studium \u010dtvrt\u00e9ho ro\u010dn\u00edku st\u0159edn\u00ed \u0161koly. Na\u0161t\u011bst\u00ed mi p\u0159ed V\u00e1nocemi 2014 ozn\u00e1mili, \u017ee na\u0161li vhodn\u00e9ho d\u00e1rce v\u00a0N\u011bmecku a&nbsp;mohl jsem tak 10. \u00fanora 2015 podstoupit transplantaci. V\u00a0tento den jsem se skute\u010dn\u011b podruh\u00e9 narodil. Proto m\u00e1m tak\u00e9 toto datum napsan\u00e9 na m\u00e9 hokejov\u00e9 masce,\u201c vzpom\u00edn\u00e1 chv\u00edle Jakub, kter\u00fd je v\u00a0p\u00e9\u010di p\u0159edn\u00edho hematoonkologa profesora Michaela Doubka z\u00a0Fakultn\u00ed nemocnice Brno.<\/p>\n<p>Jak v\u0161ak Jakub\u016fv p\u0159\u00edb\u011bh souvis\u00ed se sv\u011btov\u00fdm v\u00fdzkumem na hled\u00e1n\u00ed souvislost\u00ed genetick\u00fdch predispozic u&nbsp;leuk\u00e9mie? \u201eJakub onemocn\u011bl akutn\u00ed leuk\u00e9mi\u00ed, kter\u00e1 se mu vr\u00e1tila, co\u017e u&nbsp;tohoto typu onemocn\u011bn\u00ed u&nbsp;mlad\u00fdch lid\u00ed nen\u00ed \u010dast\u00e9. Nav\u00edc se v\u00a0rodin\u011b Jakuba vyskytovaly jin\u00e9 krevn\u00ed nemoci, kter\u00e9 ale s\u00a0leukemi\u00ed zd\u00e1nliv\u011b nesouvisely. Proto jsme se rozhodli d\u00e1le nevy\u0161et\u0159ovat pouze Jakuba, ale i&nbsp;jeho tat\u00ednka a&nbsp;bratra. Zjistili jsme, \u017ee v\u00a0jejich rodin\u011b jsou sn\u00ed\u017een\u00e9 hodnoty krevn\u00edch desti\u010dek, \u017ee tedy v\u00a0Jakubov\u011b rodin\u011b m\u016f\u017ee b\u00fdt n\u011bjak\u00e1 vrozen\u00e1 dispozice k&nbsp;leukemi\u00edm. Byl to rodinn\u00fd probl\u00e9m, co\u017e do t\u00e9 doby nebylo b\u011b\u017en\u00e9 d\u00e1vat do souvislosti. P\u00e1trali jsme proto d\u00e1le a&nbsp;genetick\u00fdmi vy\u0161et\u0159en\u00edmi jsme zjistili, \u017ee maj\u00ed v\u00a0rodin\u011b poruchu jednoho genu, kter\u00e1 zp\u016fsobuje tyto komplikace. Jakub tuto patologickou genovou mutaci bohu\u017eel tak\u00e9 zd\u011bdil. Do t\u00e9 doby nebylo zn\u00e1mo, \u017ee mutace tohoto genu m\u016f\u017ee d\u011bdi\u010dn\u00e9 leukemie zp\u016fsobovat,\u201c popisuje z\u00e1pletku t\u00e9m\u011b\u0159 jak z&nbsp;krimin\u00e1lky Michael Doubek.<\/p>\n<p>Diagnostick\u00e1 genetick\u00e1 vy\u0161et\u0159en\u00ed prov\u00e1d\u011bli v\u011bdci ze sousedn\u00edho St\u0159edoevropsk\u00e9ho technologick\u00e9ho institutu CEITEC, co\u017e je jedno ze \u0161pi\u010dkov\u00fdch center na v\u00fdzkum DNA a&nbsp;genetiky v\u00a0cel\u00e9 Evrop\u011b. V\u00a0Centru molekul\u00e1rn\u00ed medic\u00edny se specializuj\u00ed zejm\u00e9na na l\u00e9ka\u0159skou genomiku. \u201eTato v\u011bda se zab\u00fdv\u00e1 anal\u00fdzou lidsk\u00e9ho genomu, kter\u00fd m\u00e1 v\u00edce ne\u017e t\u0159i miliardy p\u00edsmenek \u2013 takzvan\u00fdch nukleotid\u016f. A&nbsp;ty my se v\u00a0na\u0161ich laborato\u0159\u00edch sna\u017e\u00edme p\u0159e\u010d\u00edst a&nbsp;zjistit, jestli se v\u00a0genomu nenach\u00e1z\u00ed mutace, kter\u00e1 je odpov\u011bdn\u00e1 za vznik onemocn\u011bn\u00ed,\u201c sezn\u00e1mila Tom\u00e1\u0161e Matonohu s\u00a0podstatou sv\u00e9 pr\u00e1ce profesorka \u0160\u00e1rka Posp\u00ed\u0161ilov\u00e1, vedouc\u00ed v\u00fdzkumn\u00e9ho centra molekul\u00e1rn\u00ed medic\u00edny CEITEC. Aby mu pr\u00e1ci v\u011bdc\u016f co nejl\u00e9pe vysv\u011btlila, provedla jej sv\u00fdm \u201ekr\u00e1lovstv\u00edm\u201c nach\u00e1zej\u00edc\u00edm se v&nbsp;kampusu Masarykovy univerzity v\u00a0Brn\u011b-Bohunic\u00edch.<\/p>\n<div class='gallery' data-lightbox-gallery><div class='row grid-gap'>\n<div class='col-12 col-md-4'>\n<a href=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-1-1600x1066.jpg\" class='gallery-item' title=''><img class=\"lazyload\" data-src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-1-460x307.jpg\" alt=\"\" \/><noscript><img src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-1-460x307.jpg\" alt=\"\" \/><\/noscript>\n<\/a>\n<\/div>\n<div class='col-12 col-md-4'>\n<a href=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-2-1600x1066.jpg\" class='gallery-item' title=''><img class=\"lazyload\" data-src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-2-460x307.jpg\" alt=\"\" \/><noscript><img src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-2-460x307.jpg\" alt=\"\" \/><\/noscript>\n<\/a>\n<\/div>\n<div class='col-12 col-md-4'>\n<a href=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-8-1600x1066.jpg\" class='gallery-item' title=''><img class=\"lazyload\" data-src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-8-460x307.jpg\" alt=\"\" \/><noscript><img src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/vyber-8-460x307.jpg\" alt=\"\" \/><\/noscript>\n<\/a>\n<\/div>\n<div class='col-12 col-md-4'>\n<a href=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/matonoha-v-intru-8-1600x1066.jpg\" class='gallery-item' title=''><img class=\"lazyload\" data-src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/matonoha-v-intru-8-460x307.jpg\" alt=\"\" \/><noscript><img src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/matonoha-v-intru-8-460x307.jpg\" alt=\"\" \/><\/noscript>\n<\/a>\n<\/div>\n<div class='col-12 col-md-4'>\n<a href=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/matonoha-v-intru-5-1600x1066.jpg\" class='gallery-item' title=''><img class=\"lazyload\" data-src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/matonoha-v-intru-5-460x307.jpg\" alt=\"\" \/><noscript><img src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/matonoha-v-intru-5-460x307.jpg\" alt=\"\" \/><\/noscript>\n<\/a>\n<\/div>\n<div class='col-12 col-md-4'>\n<a href=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/django-jet-19-1600x1067.jpg\" class='gallery-item' title=''><img class=\"lazyload\" data-src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/django-jet-19-460x307.jpg\" alt=\"\" \/><noscript><img src=\"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-content\/uploads\/2021\/06\/django-jet-19-460x307.jpg\" alt=\"\" \/><\/noscript>\n<\/a>\n<\/div>\n<\/div><\/div>\n\n<p>&nbsp;<\/p>\n<p>Nejprve mus\u00ed v\u011bdci vyizolovat DNA z&nbsp;krve pacient\u016f. Sta\u010d\u00ed skute\u010dn\u011b p\u00e1r mililitr\u016f krve, kter\u00e9 poskytnou dostatek genetick\u00e9 informace pro dal\u0161\u00ed anal\u00fdzu. \u201eJakmile m\u00e1me genetickou informaci vyizolovanou, p\u0159eneseme materi\u00e1l do laborato\u0159e, kde p\u0159ipravujeme takzvan\u00e9 DNA knihovny. Ty v\u0161ak nepln\u00edme knihami, ale fragmenty DNA, kter\u00e9 se n\u00e1sledn\u011b sekvenuj\u00ed \u2013 ur\u010duje se po\u0159ad\u00ed nukleotid\u016f v\u00a0jednotliv\u00fdch \u00fasec\u00edch DNA. To m\u016f\u017eeme d\u011blat d\u00edky takzvan\u00fdm sekven\u00e1tor\u016fm nov\u00e9 generace (NGS). A&nbsp;tyto velmi modern\u00ed a&nbsp;\u0161pi\u010dkov\u00e9 p\u0159\u00edstroje dok\u00e1zaly p\u0159e\u010d\u00edst i&nbsp;DNA pana Leke\u0161e. Toto p\u0159e\u010dten\u00ed v\u0161ech strukturn\u00edch gen\u016f v\u00a0genomu trv\u00e1 zhruba 27 hodin. V\u00fdsledn\u00e1 data pak ji\u017e zpracov\u00e1vaj\u00ed bioinformatici, kte\u0159\u00ed dok\u00e1\u017e\u00ed rozpoznat, kde se v&nbsp;DNA \u0161roubovici nach\u00e1z\u00ed specifick\u00e1 genetick\u00e1 varianta nebo mutace,\u201c prozradila profesorka Posp\u00ed\u0161ilov\u00e1.<\/p>\n<p>A pr\u00e1v\u011b d\u00edky t\u00e9to metod\u011b p\u0159i\u0161li v\u011bdci na to, pro\u010d jsou Jakub i&nbsp;jeho nejbli\u017e\u0161\u00ed ohro\u017eeni z\u00e1ke\u0159nou leuk\u00e9mi\u00ed a&nbsp;hlavn\u011b to, pro\u010d se mu nemoc m\u016f\u017ee vracet. \u201eV p\u0159\u00edpad\u011b pana Leke\u0161e jde o&nbsp;\u010d\u00e1st genu, kter\u00fd se jmenuje ETV6. Na\u0161li jsme mutaci v\u00a0jednom nukleotidu ze zmi\u0148ovan\u00fdch t\u0159\u00ed miliard, kter\u00e9 pan Leke\u0161 v\u00a0genomu m\u00e1. Vzhledem k\u00a0tomu, \u017ee tento n\u00e1lez nebyl do t\u00e9 doby zn\u00e1m\u00fd, tak jsme museli ov\u011b\u0159it vliv nalezen\u00e9 zm\u011bny na vznik n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed v\u00a0takzvan\u00fdch funk\u010dn\u00edch experimentech. Kdy\u017e u\u017e nyn\u00ed v\u00edme, \u017ee nalezen\u00e1 varianta genu zp\u016fsobuje zv\u00fd\u0161en\u00e9 riziko rozvoje leukemie, m\u016f\u017eeme ji jednodu\u0161e hledat i&nbsp;u dal\u0161\u00edch nemocn\u00fdch s\u00a0rodinn\u00fdm v\u00fdskytem leukemie,\u201c odhalila \u017eena, kter\u00e1 se krom\u011b v\u011bdeck\u00e9ho b\u00e1d\u00e1n\u00ed v\u011bnuje tak\u00e9 \u0159\u00edzen\u00ed Masarykovy univerzity na postu prorektorky pro v\u00fdzkum a&nbsp;doktorsk\u00e9 studium.<\/p>\n<p>P\u0159\u00edpad Jakuba Leke\u0161e je pro v\u011bdeck\u00fd t\u00fdm CEITECu jedn\u00edm z&nbsp;mnoha. Pracovn\u00edci v\u00a0b\u00edl\u00fdch pl\u00e1\u0161t\u00edch denn\u011b p\u0159eb\u00edraj\u00ed des\u00edtky vzork\u016f krve z\u00a0nedalek\u00e9 bohunick\u00e9 nemocnice, aby pomohli l\u00e9ka\u0159\u016fm diagnostikovat nemoci jejich pacient\u016f. V\u00a0p\u0159\u00edpad\u011b v\u00fdzkumu leuk\u00e9mi\u00ed pat\u0159\u00ed toto pracovi\u0161t\u011b mezi evropskou \u0161pi\u010dku. N\u011bkter\u00e9 jejich metody a&nbsp;z\u00e1v\u011bry v\u00fdzkum\u016f jsou nyn\u00ed ji\u017e zn\u00e1my po cel\u00e9m sv\u011bt\u011b &#8211; p\u0159\u00edkladem jsou anal\u00fdzy antionkogenu TP53 u&nbsp;leuk\u00e9mi\u00ed. S\u00a0lidmi, kter\u00fdm zachr\u00e1nili \u017eivot, se v\u0161ak potkaj\u00ed jen velmi z\u0159\u00eddka. Tak\u00e9 proto se Jakub Leke\u0161 prost\u0159ednictv\u00edm po\u0159adu Svedu v\u011bdu rozhodl pod\u011bkovat cel\u00e9mu t\u00fdmu.<\/p>\n<p>\u201eJste to pr\u00e1v\u011b vy, kte\u0159\u00ed zn\u00e1te moji \u0161roubovici DNA t\u00e9m\u011b\u0159 k\u00a0dokonalosti. Svoj\u00ed prac\u00ed a&nbsp;sv\u00fdm odhodl\u00e1n\u00edm zachra\u0148ujete lidsk\u00e9 \u017eivoty. I&nbsp;ten m\u016fj. Cht\u011bl bych v\u00e1m moc pod\u011bkovat za to, co d\u011bl\u00e1te a&nbsp;hlavn\u011b za to, \u017ee jste v\u00a0tom nejlep\u0161\u00ed,\u201c \u0159\u00edk\u00e1 Jakub tv\u00e1\u0159\u00ed v\u00a0tv\u00e1\u0159 dvan\u00e1cti\u010dlenn\u00e9mu t\u00fdmu.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ve t\u0159et\u00edm d\u00edle po\u0159adu Svedu v\u011bdu v\u00e1s Tom\u00e1\u0161 Matonoha sezn\u00e1m\u00ed s\u00a0Jakubem Leke\u0161em, kter\u00fd ve sv\u00e9m \u017eivot\u011b svedl t\u011b\u017ek\u00fd boj s&nbsp;akutn\u00ed\u00a0leuk\u00e9mi\u00ed. Dnes \u017eije tento p\u011btadvacetilet\u00fd mlad\u00edk \u017eivot tak, jak m\u00e1 \u017eivot mlad\u00e9ho \u010dlov\u011bka vypadat. V\u011bnuje se folkloru, hraje hokej pro z\u00e1bavu a&nbsp;ryba\u0159\u00ed. Jakou roli v\u00a0z\u00e1chran\u011b jeho \u017eivota sehr\u00e1li brn\u011bn\u0161t\u00ed l\u00e9ka\u0159i a&nbsp;v\u011bdci? A&nbsp;m\u016f\u017ee v\u00fdzkum genetik\u016f ze St\u0159edoevropsk\u00e9ho [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/posts\/2610"}],"collection":[{"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/comments?post=2610"}],"version-history":[{"count":4,"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/posts\/2610\/revisions"}],"predecessor-version":[{"id":2615,"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/posts\/2610\/revisions\/2615"}],"wp:attachment":[{"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/media?parent=2610"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/categories?post=2610"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hvezdarna.cz\/sveduvedu\/wp-json\/wp\/v2\/tags?post=2610"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}