{"id":864,"date":"2011-03-04T10:32:38","date_gmt":"2011-03-04T08:32:38","guid":{"rendered":"http:\/\/slanedeti.sk\/cms\/chyba-genu-pri-cystickej-fibroze-je-dvojnasobne-nestastie-2\/201103"},"modified":"2014-02-09T15:51:46","modified_gmt":"2014-02-09T14:51:46","slug":"chyba-genu-pri-cystickej-fibroze-je-dvojnasobne-nestastie-2","status":"publish","type":"post","link":"https:\/\/slanedeti.sk\/cms\/chyba-genu-pri-cystickej-fibroze-je-dvojnasobne-nestastie-2\/864","title":{"rendered":"Chyba g\u00e9nu pri cystickej fibr\u00f3ze je dvojn\u00e1sobn\u00e9 ne\u0161\u0165astie"},"content":{"rendered":"<p>V\u00fdskumn\u00edci na Univerzite Severnej Karol\u00edny (\u010falej UNC) na lek\u00e1rskej fakulte v Chapel Hill zistili, \u017ee g\u00e9n, zmutovan\u00fd pri cystickej fibr\u00f3ze, nielen reguluje transport i\u00f3nov v chloridovom kan\u00e1li, ale tie\u017e br\u00e1ni nadmern\u00e9mu toku i\u00f3nov sod\u00edka.<\/p>\n<p>Nerovnov\u00e1ha soli a vody u pacientov s cystickou fibr\u00f3zou sp\u00f4sobuje, \u017ee sa im p\u013e\u00faca upch\u00e1vaj\u00fa lepkav\u00fdm hlienom, a preto s\u00fa n\u00e1chyln\u00e9 na infekciu. T\u00e1to nerovnov\u00e1ha vyvol\u00e1va probl\u00e9my, ktorej pr\u00ed\u010dinou je zn\u00e1ma genetick\u00e1 chyba, ktor\u00e1 blokuje kan\u00e1l v bunkovej membr\u00e1ne mali\u010dk\u00fdm chloridov\u00fdm i\u00f3nom pri ich pohybe cez bunkov\u00e9 membr\u00e1ny v p\u013e\u00facach.<\/p>\n<p>Ako v\u0161ak rovnak\u00e1 g\u00e9nov\u00e1 mut\u00e1cia naru\u0161uje paraleln\u00fd tok druh\u00e9ho komponentu soli, i\u00f3nov sod\u00edka? V s\u00fa\u010dasnosti v\u00fdskumn\u00edci na Univerzite Severnej Karol\u00edny na lek\u00e1rskej fakulte v Chapel Hill na\u0161li odpove\u010f, ke\u010f demon\u0161trovali, \u017ee g\u00e9n, zmutovan\u00fd pri cystickej fibr\u00f3ze, nielen riadi tok chloridov\u00e9ho kan\u00e1lu, ale tie\u017e br\u00e1ni nadmern\u00e9mu transportu sod\u00edkov\u00fdch i\u00f3nov.<\/p>\n<p>Toto zistenie nazna\u010duje, \u017ee smutne presl\u00e1ven\u00e1 mut\u00e1cia v g\u00e9ne s n\u00e1zvom CFTR je dvojn\u00e1sobn\u00e9 ne\u0161\u0165astie, ke\u010f\u017ee m\u00e1 vplyv na tok dvoch odli\u0161n\u00fdch i\u00f3nov, ktor\u00e9 s\u00fa d\u00f4le\u017eit\u00e9, aby hlien na povrchu d\u00fdchac\u00edch ciest bol hydratovan\u00fd. Objasnenie s\u00favislosti medzi genetick\u00fdm defektom a hust\u00fdm lepkav\u00fdm hlienom v p\u013e\u00facach pri cystickej fibr\u00f3ze by mohlo v\u00fdskumn\u00edkom pom\u00f4c\u0165 vyvin\u00fa\u0165 lep\u0161iu terapiu.<\/p>\n<p>\u201eJe ve\u013emi d\u00f4le\u017eit\u00e9 spomali\u0165 tento sod\u00edkov\u00fd kan\u00e1l, ke\u010f je prive\u013emi akt\u00edvny, sk\u00f4r ako to povedie k dehydrat\u00e1cii hlienu v d\u00fdchac\u00edch cest\u00e1ch pacienta\u201c, povedala Martina Gentzschov\u00e1,\u00a0 PhD., odborn\u00e1 asistentka katedry bunkovej a v\u00fdvojovej biol\u00f3gie na UNC a ved\u00faca autorka \u0161t\u00fadie, publikovanej 15. okt\u00f3bra v \u010dasopise Journal of Biological Chemistry. \u201eAk pochop\u00edme mechanizmus, ako to CFTR rob\u00ed, mohlo by n\u00e1m to umo\u017eni\u0165 nov\u00fd pr\u00edstup k lie\u010dbe tejto choroby.\u201c<\/p>\n<p>Cystick\u00e1 fibr\u00f3za je jedn\u00fdm z najbe\u017enej\u0161\u00edch genetick\u00fdch ochoren\u00ed bielej popul\u00e1cie, v Spojen\u00fdch \u0161t\u00e1toch sa ochorenie vyskytuje v pomere 1: 3500 \u017eivonaroden\u00fdch det\u00ed. Choroba je sp\u00f4soben\u00e1 defektom v g\u00e9ne, ktor\u00fd k\u00f3duje prote\u00edn s n\u00e1zvom CF transmembr\u00e1nov\u00fd regul\u00e1tor vodivosti (CFTR). Pacienti s cystickou fibr\u00f3zou maj\u00fa pri naj\u0165a\u017e\u0161\u00edch form\u00e1ch choroby ve\u013emi m\u00e1lo prote\u00ednu CFTR, a to m\u00e1 vplyv na sp\u00f4sob presunu chloridov\u00fdch i\u00f3nov v mnoh\u00fdch telesn\u00fdch tkaniv\u00e1ch. Mnoh\u00ed vedci vyslovili hypot\u00e9zu, \u017ee CFTR tie\u017e reguluje pohyb in\u00fdch i\u00f3nov, napr. cez epitelov\u00fd sod\u00edkov\u00fd kan\u00e1l (EnaC).<\/p>\n<p>Uk\u00e1zalo sa, \u017ee tento kan\u00e1l bol pr\u00edli\u0161 akt\u00edvny pri transporte sod\u00edkov\u00fdch i\u00f3nov v d\u00fdchac\u00edch cest\u00e1ch pacientov s cystickou fibr\u00f3zou, tak\u017ee M. Gentzschov\u00e1\u00a0 a jej kolegovia za rozhodli zisti\u0165 pre\u010do. Najprv sa pozreli na \u00fa\u010dinky g\u00e9nu CFTR na sod\u00edkov\u00fd kan\u00e1l v oocytoch \u017eaby rodu Xenopus, \u010di\u017ee v \u017eab\u00edch vaj\u00ed\u010dkach. Zistili, \u017ee ke\u010f bol g\u00e9n CFTR neporu\u0161en\u00fd, sod\u00edkov\u00fd kan\u00e1l bol pod kontrolou\u201c.<\/p>\n<p>V\u00fdskumn\u00edci pokra\u010dovali vo v\u00fdskume a viacer\u00fdmi biochemick\u00fdmi a elektrofyziologick\u00fdmi experimentmi uk\u00e1zali, \u017ee chloridov\u00fd kan\u00e1l a sod\u00edkov\u00e9 kan\u00e1ly sa vz\u00e1jomne ovplyv\u0148uj\u00fa. M. Gentzschov\u00e1\u00a0 a jej kolegovia tie\u017e potvrdili svoje v\u00fdsledky v \u013eudsk\u00fdch prim\u00e1rnych bunk\u00e1ch epitelu d\u00fdchac\u00edch ciest pri zdrav\u00fdch dobrovo\u013en\u00edkoch\u00a0 a pacientoch a s cystickou fibr\u00f3zou, pri\u010dom sa uk\u00e1zalo, \u017ee sod\u00edkov\u00fd kan\u00e1l bol v skuto\u010dnosti akt\u00edvnej\u0161\u00ed, ke\u010f nebol pr\u00edtomn\u00fd \u017eiadny funk\u010dn\u00fd CFTR.<\/p>\n<p>Teraz, ke\u010f sa vie, \u017ee chloridov\u00fd kan\u00e1l m\u00f4\u017ee skuto\u010dne ovplyvni\u0165 funkciu sod\u00edkov\u00e9ho kan\u00e1la, M. Gentzschov\u00e1\u00a0 sa pok\u00fa\u0161a zisti\u0165 ako.<\/p>\n<p>\u201eNevieme, \u010di to rob\u00ed v podstate tak, \u017ee p\u00f4sob\u00ed ako cestn\u00fd z\u00e1taras a fyzicky br\u00e1ni prote\u00e1zam v aktivovan\u00ed EnaC, alebo \u010di to rob\u00ed\u00a0 nejak\u00fdm nepriamym sp\u00f4sobom\u201c povedala Gentzschov\u00e1. \u201eTo je moment\u00e1lne predmetom n\u00e1\u0161ho v\u00fdskumu, tak\u017ee treba e\u0161te h\u013eada\u0165 odpovede na mnoh\u00e9 ot\u00e1zky.\u201c<\/p>\n<p>Tento v\u00fdskum financoval National Institutes of Health a realizovalo ho centrum Cystic Fibrosis\/Pulmonarty Research and Treatment Center v University of North Carolina, ktor\u00e9\u00a0 finacuje tie\u017e nad\u00e1cia Cystic Fibrosis Foundation. Spoluautormi \u0161t\u00fadie s\u00fa Richard C. Boucher, MD, riadite\u013e Cystic Fibrosis\/Pulmonary Research and Treatment Center; a M. Jackson Stutts, PhD, profesor medic\u00edny.<\/p>\n<p><em>Zdroj:\u00a0<\/em><em>Les Lang,\u00a0<\/em><em>University of North Carolina School of Medicine,\u00a0<\/em><em><a href=\"http:\/\/www.medicalnewstoday.com\/articles\/207857.php\">http:\/\/www.medicalnewstoday.com\/articles\/207857.php<\/a><\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>V&yacute;skumn&iacute;ci na Univerzite Severnej Karol&iacute;ny (&#271;alej UNC) na lek&aacute;rskej fakulte v Chapel Hill zistili, &#382;e g&eacute;n, zmutovan&yacute; pri cystickej fibr&oacute;ze, nielen reguluje transport i&oacute;nov v chloridovom kan&aacute;li, ale tie&#382; br&aacute;ni nadmern&eacute;mu toku i&oacute;nov sod&iacute;ka. Nerovnov&aacute;ha soli a vody u pacientov &hellip; <a href=\"https:\/\/slanedeti.sk\/cms\/chyba-genu-pri-cystickej-fibroze-je-dvojnasobne-nestastie-2\/864\">Continued<\/a><\/p>\n","protected":false},"author":3,"featured_media":1600,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"kt_blocks_editor_width":"","footnotes":""},"categories":[3],"tags":[168,210],"class_list":["post-864","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-lieky-a-liecba","tag-gen-cystickej-fibrozy","tag-lieky"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Chyba g\u00e9nu pri cystickej fibr\u00f3ze je dvojn\u00e1sobn\u00e9 ne\u0161\u0165astie - Slan\u00e9 deti<\/title>\n<meta name=\"description\" content=\"Nerovnov\u00e1ha soli a vody u pacientov s cystickou fibr\u00f3zou vyvol\u00e1va probl\u00e9m, ktor\u00e9ho pr\u00ed\u010dinou je zn\u00e1ma genetick\u00e1 chyba, ktor\u00e1 blokuje kan\u00e1l v bunkovej membr\u00e1ne mali\u010dk\u00fdm chloridov\u00fdm i\u00f3nom pri ich pohybe cez bunkov\u00e9 membr\u00e1ny v p\u013e\u00facach.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/slanedeti.sk\/cms\/chyba-genu-pri-cystickej-fibroze-je-dvojnasobne-nestastie-2\/864\" \/>\n<meta property=\"og:locale\" content=\"sk_SK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Chyba g\u00e9nu pri cystickej fibr\u00f3ze je dvojn\u00e1sobn\u00e9 ne\u0161\u0165astie - 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