{"id":2970,"date":"2019-03-12T01:46:00","date_gmt":"2019-03-12T06:46:00","guid":{"rendered":"https:\/\/worldcarenew.wpenginepowered.com\/?p=2970"},"modified":"2026-03-08T02:24:28","modified_gmt":"2026-03-08T07:24:28","slug":"vyskum-z-kliniky-mayo-smeruje-ku-klinickym-skuskam-als","status":"publish","type":"post","link":"https:\/\/www.worldcare.com\/sk\/research-from-the-mayo-clinic-is-moving-towards-clinical-trials-for-als\/","title":{"rendered":"V\u00fdskum z kliniky Mayo smeruje ku klinick\u00fdm sk\u00fa\u0161kam pre ALS"},"content":{"rendered":"<p>Prelomov\u00fd v\u00fdskum amyotrofickej later\u00e1lnej skler\u00f3zy (ALS) od v\u00fdskumn\u00e9ho t\u00edmu na klinike Mayo v roku 2011 objavil genetick\u00fa opakuj\u00facu sa mut\u00e1ciu zn\u00e1mu ako c9orf72, ktor\u00e1 by mohla potenci\u00e1lne poskytn\u00fa\u0165 inform\u00e1cie o tom, ako lie\u010di\u0165 alebo dokonca predch\u00e1dza\u0165 ALS u pacientov. T\u00e1to mut\u00e1cia sa vyskytuje v 40 percent\u00e1ch v\u0161etk\u00fdch famili\u00e1rnych pr\u00edpadov pacientov s ALS a v 10 percent\u00e1ch sporadick\u00fdch pr\u00edpadov.&nbsp;<a href=\"https:\/\/www.mayo.edu\/research\/faculty\/petrucelli-leonard-ph-d\/bio-00027816?_ga=2.210979861.1604730062.1551286644-1906995952.1549485031\" target=\"_blank\" rel=\"noreferrer noopener\">Leonard Petrucelli, PhD.<\/a>, \u010dlen predsedu neurovedy na floridskom kampuse kliniky Mayo, uv\u00e1dza: \u201cIdentifik\u00e1cia g\u00e9nu bola pre t\u00fato oblas\u0165 transforma\u010dn\u00e1, je zriedkav\u00e9 n\u00e1js\u0165 g\u00e9n, ktor\u00fd by mal potenci\u00e1l ovplyvni\u0165 ve\u013ea pacientov.\u201d Od tohto prelomov\u00e9ho objavu nieko\u013eko neurovedn\u00fdch laborat\u00f3ri\u00ed na Floride spustilo \u0161t\u00fadie na oddelenie \u00fa\u010dinkov mut\u00e1cie c9.&nbsp;&nbsp;&nbsp;<\/p>\n\n\n\n<p>Laborat\u00f3rium Dr. Petrucelliho zistilo, \u017ee mut\u00e1cia c9 vedie k nezvy\u010dajnej forme RNA, ktor\u00e1 umo\u017e\u0148uje mut\u00e1cii ob\u00eds\u0165 sign\u00e1ly pre synt\u00e9zu zdrav\u00fdch bielkov\u00edn; to vedie k akumul\u00e1cii abnorm\u00e1lnych bielkov\u00edn. Po pr\u00edstupe a anal\u00fdze mozgovej banky kliniky Mayo, ktor\u00e1 obsahuje rozsiahle zdroje, boli v\u00fdskumn\u00edci Dr. Dicksona schopn\u00ed rozpozna\u0165 c9 ako opakuj\u00facu sa RNA a abnorm\u00e1lne bielkoviny ako jedine\u010dn\u00e9 patol\u00f3gie. Tieto abnormality s\u00fa jedine\u010dn\u00e9 len pre t\u00fdch jedincov, ktor\u00ed maj\u00fa mut\u00e1ciu c9.<\/p>\n\n\n\n<p>\u010eal\u0161ie sk\u00famanie toho, ako abnorm\u00e1lne mut\u00e1cie C9 sp\u00f4sobuj\u00fa ALS, viedlo k objavu \u010fal\u0161ieho prote\u00ednu c9 naz\u00fdvan\u00e9ho poly(GP), ktor\u00e9ho hladina sa zn\u00ed\u017eila, ke\u010f boli neur\u00f3ny lie\u010den\u00e9 liekmi zameran\u00fdmi na abnorm\u00e1lnu opakuj\u00facu sa RNA. Poly(GP) je prv\u00fd farmakodynamick\u00fd marker pre pacientov s ALS s mut\u00e1ciou c9 a m\u00f4\u017ee pom\u00f4c\u0165 spr\u00edstupni\u0165 lie\u010dbu r\u00fdchlej\u0161ie a vyl\u00fa\u010di\u0165 ne\u00fa\u010dinn\u00e9 lie\u010dby, uviedol Dr. Grendon.<\/p>\n\n\n\n<p>Tieto zistenia umo\u017enili vyvin\u00fa\u0165 klinick\u00e9 \u0161t\u00fadie pre jedincov s touto mut\u00e1ciou. Vzh\u013eadom na to, \u017ee 40 percent pacientov s ALS trp\u00ed touto mut\u00e1ciou c9, by tento prelomov\u00fd objav mohol v\u00fdskumn\u00edkom umo\u017eni\u0165 podnikn\u00fa\u0165 \u010fal\u0161ie mo\u017en\u00e9 kroky v lie\u010dbe ALS.<\/p>\n\n\n\n<p>Ak v\u00e1m alebo \u010dlenovi va\u0161ej rodiny diagnostikovali ALS a chceli by ste druh\u00fd lek\u00e1rsky n\u00e1zor, pros\u00edm&nbsp;<a href=\"https:\/\/www.worldcare.com\/sk\/kontakt\/\">kontaktujte n\u00e1s<\/a>.<\/p>\n\n\n\n<p><strong>Zdroj:<\/strong>&nbsp;<a href=\"https:\/\/advancingthescience.mayo.edu\/2019\/01\/02\/toward-clinical-trials-for-one-type-of-als\/\" target=\"_blank\" rel=\"noopener\">https:\/\/advancingthescience.mayo.edu\/2019\/01\/02\/toward-clinical-trials-for-one-type-of-als\/<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Groundbreaking research into amyotrophic lateral sclerosis (ALS) from a research team at Mayo Clinic discovered the genetic repeat mutation known as c9orf72 in 2011 could potentially hold insight on how to cure or possibly even prevent ALS in patients. This mutation occurs in 40 percent of all familial cases of patients with ALS and 10 [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3012,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[16],"tags":[68,69,57,70],"class_list":["post-2970","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medical-second-opinion","tag-als","tag-clinical-trials","tag-diagnosis","tag-medical-treatment"],"_links":{"self":[{"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/posts\/2970","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/comments?post=2970"}],"version-history":[{"count":0,"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/posts\/2970\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/media\/3012"}],"wp:attachment":[{"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/media?parent=2970"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/categories?post=2970"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.worldcare.com\/sk\/wp-json\/wp\/v2\/tags?post=2970"}],"curies":[{"name":"pracovn\u00fd list","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}