{"id":15115,"date":"2014-03-12T10:24:49","date_gmt":"2014-03-12T09:24:49","guid":{"rendered":"http:\/\/www.invarena.cz\/?p=15115"},"modified":"2014-03-12T10:24:49","modified_gmt":"2014-03-12T09:24:49","slug":"cesti-vedci-nasli-protein-zpusobujici-onemocneni-sitnice","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=15115","title":{"rendered":"\u010ce\u0161t\u00ed v\u011bdci na\u0161li protein zp\u016fsobuj\u00edc\u00ed onemocn\u011bn\u00ed s\u00edtnice"},"content":{"rendered":"

Dal\u0161\u00ed pokrok ve b\u00e1d\u00e1n\u00ed sm\u011b\u0159uj\u00edc\u00edm k l\u00e9\u010db\u011b pigment\u00f3zn\u00ed retinitidy, je\u017e vede k postupn\u00e9mu oslepnut\u00ed, u\u010dinili \u010de\u0161t\u00ed v\u011bdci.Necht\u011bj\u00ed ale vzbuzovat fale\u0161n\u00e9 nad\u011bje.<\/strong> <\/p>\n

 <\/p>\n

\u010ce\u0161t\u00ed v\u011bdci z Akademie v\u011bd \u010cR ur\u010dili genovou mutaci, kter\u00e1 zp\u016fsobuje nel\u00e9\u010diteln\u00e9 onemocn\u011bn\u00ed s\u00edtnice – pigment\u00f3zn\u00ed retinitidu<\/strong>. Tato \u010dast\u00e1 d\u011bdi\u010dn\u00e1 nemoc m\u016f\u017ee v\u00e9st a\u017e ke slepot\u011b a vyskytuje se u jednoho ze \u010dty\u0159 tis\u00edc obyvatel. Prvn\u00ed p\u0159\u00edznaky se mohou vypozorovat ji\u017e u desetilet\u00fdch d\u011bt\u00ed.<\/p>\n

Pacientovi s t\u00edmto onemocn\u011bn\u00edm s\u00edtnicov\u00e9 bu\u0148ky postupn\u011b odum\u00edraj\u00ed, a\u017e nakonec oslepne. P\u0159\u00ed\u010diny onemocn\u011bn\u00ed jsou r\u016fzn\u00e9. V\u011bt\u0161inou jde ale o mutace gen\u016f. A podle toho, kter\u00e9 geny jsou po\u0161kozeny, se pak projevuje i samotn\u00e1 nemoc. Takov\u00fdch gen\u016f, jejich\u017e mutace jsou spojeny p\u0159\u00edmo s odum\u00edr\u00e1n\u00edm s\u00edtnice, je zn\u00e1mo t\u00e9m\u011b\u0159 sedmdes\u00e1t. Zat\u00edm neprob\u00e1dan\u00e9 byly mutace genu, kter\u00e9 ovliv\u0148uj\u00ed zkouman\u00fd protein.<\/p>\n

Tento protein funguje jako jak\u00fdsi bun\u011b\u010dn\u00fd „krej\u010d\u00ed“. Mutace zp\u016fsob\u00ed, \u017ee tento „krej\u010d\u00ed“ za\u010dne d\u011blat chyby a \u0161patn\u011b st\u0159\u00edh\u00e1 geny ve sv\u011btlo\u010divn\u00fdch bu\u0148k\u00e1ch s\u00edtnice, kter\u00e9 pak kv\u016fli jeho „pr\u00e1ci“ um\u00edraj\u00ed.<\/p>\n

„V\u00fdzkum tohoto proteinu byl pom\u011brn\u011b dlouh\u00fd. Trval n\u011bkolik let, proto\u017ee jsme dlouho nemohli p\u0159ij\u00edt na to, jak mutace ovliv\u0148uj\u00ed chov\u00e1n\u00ed tohoto proteinu. Ve v\u0161ech na\u0161ich z\u00e1kladn\u00edch testech se toti\u017e mutovan\u00e9 proteiny chovaly stejn\u011b jako ten norm\u00e1ln\u00ed nemutovan\u00fd,“ uvedl vedouc\u00ed v\u00fdzkumn\u00e9ho t\u00fdmu David Stan\u011bk z \u00dastavu molekul\u00e1rn\u00ed genetiky AV \u010cR. V\u011bdci proto museli vymyslet komplikovan\u00fd test, aby odhalili, \u017ee mutace zvy\u0161uj\u00ed ‚chybovost‘ tohoto proteinu. V\u00fdsledky dosavadn\u00edho b\u00e1d\u00e1n\u00ed publikovali v mezin\u00e1rodn\u00edm odborn\u00e9m \u010dasopise Human Mutation.<\/p>\n

P\u0159ed sebou maj\u00ed je\u0161t\u011b dal\u0161\u00ed v\u00fdzkum, kter\u00fd jim pom\u016f\u017ee pochopit podstatu onemocn\u011bn\u00ed a pom\u016f\u017ee tak pacient\u016fm. „\u010cek\u00e1 n\u00e1s te\u010f mnoho pr\u00e1ce, abychom spr\u00e1vn\u011b popsali probl\u00e9my, kter\u00e9 lajd\u00e1ctv\u00ed mutovan\u00e9ho proteinu BRR2 p\u016fsob\u00ed v bu\u0148k\u00e1ch s\u00edtnice,“ konstatoval Stan\u011bk. Kdy se bude moct onemocn\u011bn\u00ed za\u010d\u00edt l\u00e9\u010dit, si v\u0161ak netrouf\u00e1 odhadnout. Nechce pr\u00fd v pacientech, kte\u0159\u00ed touto chorobou trp\u00ed, vzbuzovat jak\u00e9koliv fale\u0161n\u00e9 nad\u011bje.<\/p>\n

Jak \u010desk\u00e1 populace trp\u00ed mutac\u00ed zp\u016fsobuj\u00edc\u00ed retinitis pigmentosa \u010dili d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed s\u00edtnice, se zat\u00edm nev\u00ed. Zdravotn\u00edci ze V\u0161eobecn\u00e9 fakultn\u00ed nemocnice v Praze ho pr\u00fd cht\u011bli zmapovat, ale nedostali grant od ministerstva zdravotnictv\u00ed.<\/p>\n

ilustra\u010dn\u00ed foto: puravida MorgueFile<\/p>\n","protected":false},"excerpt":{"rendered":"

Dal\u0161\u00ed pokrok ve b\u00e1d\u00e1n\u00ed sm\u011b\u0159uj\u00edc\u00edm k l\u00e9\u010db\u011b pigment\u00f3zn\u00ed retinitidy, je\u017e vede k postupn\u00e9mu oslepnut\u00ed, u\u010dinili \u010de\u0161t\u00ed v\u011bdci.Necht\u011bj\u00ed ale vzbuzovat fale\u0161n\u00e9 nad\u011bje.<\/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-15115","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\/15115","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=15115"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/15115\/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=15115"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=15115"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=15115"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}