{"id":67090,"date":"2026-04-26T15:07:08","date_gmt":"2026-04-26T15:07:08","guid":{"rendered":"https:\/\/www.europesays.com\/cz\/67090\/"},"modified":"2026-04-26T15:07:08","modified_gmt":"2026-04-26T15:07:08","slug":"vedci-z-brna-popsali-pricinu-vzacneho-genetickeho-onemocneni-u-americkych-amisu","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/cz\/67090\/","title":{"rendered":"V\u011bdci z\u00a0Brna popsali p\u0159\u00ed\u010dinu vz\u00e1cn\u00e9ho genetick\u00e9ho onemocn\u011bn\u00ed u\u00a0americk\u00fdch ami\u0161\u016f"},"content":{"rendered":"

Nemoc se objevuje u\u00a0d\u011bt\u00ed ami\u0161\u016f. Jde o\u00a0poruchu, kter\u00e1 zasahuje v\u00fdvoj nervov\u00e9 soustavy a\u00a0projevuje se svalovou slabost\u00ed nebo epileptick\u00fdmi z\u00e1chvaty. Je spojena s\u00a0malou zm\u011bnou v\u00a0jednom proteinu. Dlouho nebylo jasn\u00e9, jak\u00fd proces na \u00farovni bu\u0148ky tato zm\u011bna naru\u0161uje.<\/p>\n

Za vznikem onemocn\u011bn\u00ed stoj\u00ed naru\u0161en\u00ed mechanismu, bez n\u011bho\u017e bu\u0148ka nedok\u00e1\u017ee spr\u00e1vn\u011b zpracovat genetickou informaci.<\/p>\n

\u201eKa\u017ed\u00e1 bu\u0148ka mus\u00ed genetickou informaci nejprve p\u0159epsat a\u00a0pot\u00e9 upravit, aby ji mohla pou\u017e\u00edt. Z\u00a0p\u016fvodn\u00edho \u201apracovn\u00edho p\u0159episu\u2018 odstran\u00ed nepot\u0159ebn\u00e9 \u010d\u00e1sti a\u00a0zbytek spoj\u00ed dohromady,\u201c uvedla prvn\u00ed autorka studie Pavla Gajdu\u0161kov\u00e1.<\/p>\n

<\/a><\/p>\n

P\u0159epis je ozna\u010dovan\u00fd jako sest\u0159ih RNA. Je slo\u017een z\u00a0mnoha na sebe navazuj\u00edc\u00edch krok\u016f a\u00a0je doslova p\u0159\u00edsn\u011b \u0159\u00edzen\u00fd. Pokud se proces neuskute\u010dn\u00ed spr\u00e1vn\u011b nebo se n\u011bkde zastav\u00ed, bu\u0148ka nedok\u00e1\u017ee p\u0159epsanou genetickou informaci spr\u00e1vn\u011b upravit do podoby, kterou m\u016f\u017ee vyu\u017e\u00edt, a\u00a0funguje \u0161patn\u011b.<\/p>\n

Kl\u00ed\u010dov\u00fd sign\u00e1l uvnit\u0159 bu\u0148ky<\/p>\n

T\u00fdm z\u00a0CEITECu nyn\u00ed popsal jeden z\u00a0kl\u00ed\u010dov\u00fdch moment\u016f tohoto procesu, a\u00a0to sign\u00e1l uvnit\u0159 bu\u0148ky. Funguje jako kontroln\u00ed bod: teprve a\u017e je spln\u011bn, cel\u00fd mechanismus se aktivuje a\u00a0proces m\u016f\u017ee pokra\u010dovat. V\u011bdci dok\u00e1zali, \u017ee p\u0159i sest\u0159ihu RNA je v\u00a0ur\u010dit\u00e9m kroku nezbytn\u00e1 chemick\u00e1 \u00faprava proteinu SF3B1, d\u00edky kter\u00e9 se na n\u011bj m\u016f\u017ee nav\u00e1zat dal\u0161\u00ed protein (SNIP1). <\/p>\n

\u201ePokud se sign\u00e1l nep\u0159ed\u00e1 spr\u00e1vn\u011b, bu\u0148ka nedok\u00e1\u017ee v\u00a0sest\u0159ihu pokra\u010dovat,\u201c vysv\u011btlila Gajdu\u0161kov\u00e1.<\/p>\n

U posti\u017een\u00fdch d\u011bt\u00ed se vyskytuje drobn\u00e1 genetick\u00e1 zm\u011bna v\u00a0proteinu SNIP1, kter\u00e1 naru\u0161uje jeho schopnost spr\u00e1vn\u011b reagovat na sign\u00e1l zprost\u0159edkovan\u00fd upraven\u00fdm proteinem SF3B1, a\u00a0sest\u0159ih RNA tak neprob\u00edh\u00e1 tak efektivn\u011b jako u\u00a0zdrav\u00e9ho \u010dlov\u011bka. V\u00fdsledkem jsou chyby v\u00a0sest\u0159ihu RNA, kter\u00e9 bu\u0148ka nedok\u00e1\u017ee opravit, a\u00a0jej\u00ed fungov\u00e1n\u00ed je t\u00edm naru\u0161eno.<\/p>\n

\u201eP\u0159\u00ed\u010dina tohoto onemocn\u011bn\u00ed potvrzuje spr\u00e1vnost n\u00e1mi popsan\u00e9ho kontroln\u00edho bodu. Ukazuje, \u017ee i\u00a0mal\u00e1 zm\u011bna v\u00a0jednom z\u00a0protein\u016f tohoto kontroln\u00edho bodu m\u016f\u017ee naru\u0161it mechanismus sest\u0159ihu RNA, na kter\u00e9m je bu\u0148ka z\u00e1visl\u00e1,\u201c doplnil vedouc\u00ed v\u00fdzkumu Dalibor Bla\u017eek.<\/p>\n

Foto: CEITEC\/Martin Indruch<\/p>\n

V\u011bdec Dalibor Bla\u017eek<\/p>\n

V\u00fdzkum m\u00e1 p\u0159esah i\u00a0do modern\u00ed spole\u010dnosti. Stejn\u00fd mechanismus m\u016f\u017ee hr\u00e1t roli i\u00a0p\u0159i regulaci bun\u011b\u010dn\u00e9ho d\u011blen\u00ed\u00a0\u2013 procesu, kter\u00fd b\u00fdv\u00e1 naru\u0161en nap\u0159\u00edklad u\u00a0onkologick\u00fdch onemocn\u011bn\u00ed.<\/p>\n

Kdo jsou ami\u0161ov\u00e9?<\/p>\n

– Jde o\u00a0k\u0159es\u0165anskou skupinu, kter\u00e1 vznikla v\u00a017.\u00a0stolet\u00ed ve \u0160v\u00fdcarsku a\u00a0ji\u017en\u00edm N\u011bmecku pod veden\u00edm Jakoba Ammanna. Kv\u016fli n\u00e1bo\u017eensk\u00e9mu pron\u00e1sledov\u00e1n\u00ed v\u00a0Evrop\u011b emigrovali do USA.<\/p>\n

– V\u011b\u0159\u00ed, \u017ee p\u0159\u00edli\u0161n\u00e9 propojen\u00ed s\u00a0modern\u00ed spole\u010dnost\u00ed odv\u00e1d\u00ed \u010dlov\u011bka od Boha a\u00a0rodiny.<\/p>\n

– V\u011bt\u0161ina z\u00a0nich nepou\u017e\u00edv\u00e1 elekt\u0159inu ze s\u00edt\u011b, auta, telefony v\u00a0dom\u011b ani internet. M\u00edsto aut jezd\u00ed v\u00a0ko\u010d\u00e1rech ta\u017een\u00fdch ko\u0148mi (buggies).<\/p>\n

– Odm\u00edtaj\u00ed n\u00e1sil\u00ed a\u00a0vojenskou slu\u017ebu, \u017eenat\u00ed mu\u017ei nos\u00ed plnovous (ale bez kn\u00edru, kter\u00fd byl historicky spojen s\u00a0voj\u00e1ky), \u017eeny nos\u00ed skromn\u00e9 \u0161aty, z\u00e1st\u011bry a\u00a0\u010depec.<\/p>\n

– V\u00a0Severn\u00ed Americe \u017eije p\u0159ibli\u017en\u011b 430\u00a0000\u00a0ami\u0161\u016f, p\u0159i\u010dem\u017e jejich populace se za ka\u017ed\u00fdch 20\u00a0let zhruba zdvojn\u00e1sob\u00ed.<\/p>\n

– Mluv\u00ed mezi sebou dialektem n\u011bm\u010diny, kter\u00e9mu se \u0159\u00edk\u00e1 Pennsylvania Dutch (p\u0159esto\u017ee s\u00a0nizozem\u0161tinou\/Dutch to nem\u00e1 nic spole\u010dn\u00e9ho, jde o\u00a0zkomoleninu slova \u201eDeutsch\u201c).<\/p>\n

<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"Nemoc se objevuje u\u00a0d\u011bt\u00ed ami\u0161\u016f. Jde o\u00a0poruchu, kter\u00e1 zasahuje v\u00fdvoj nervov\u00e9 soustavy a\u00a0projevuje se svalovou slabost\u00ed nebo epileptick\u00fdmi…\n","protected":false},"author":2,"featured_media":67091,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[22583,22582,43,42,41,40,490,5866,113,4095],"class_list":{"0":"post-67090","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-cesko","8":"tag-amisove","9":"tag-ceitec","10":"tag-ceska-republika","11":"tag-cesko","12":"tag-czech-republic","13":"tag-czechia","14":"tag-dna","15":"tag-lekarska-genetika","16":"tag-usa","17":"tag-vyzkum"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@cz\/116471637393683118","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/posts\/67090","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/comments?post=67090"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/posts\/67090\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/media\/67091"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/media?parent=67090"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/categories?post=67090"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/tags?post=67090"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}