{"id":1389507,"date":"2024-02-15T12:59:18","date_gmt":"2024-02-15T11:59:18","guid":{"rendered":"https:\/\/dnaera.com\/hu\/?p=1389507"},"modified":"2024-04-19T13:00:56","modified_gmt":"2024-04-19T11:00:56","slug":"deficit-dbp","status":"publish","type":"post","link":"https:\/\/dnaera.com\/hu\/blog\/deficit-dbp\/","title":{"rendered":"Deficit DBP: Nov\u00fd v\u00fdsledok, ktor\u00fd by mal pozna\u0165 ka\u017ed\u00fd, kto pl\u00e1nuje rodi\u010dovstvo"},"content":{"rendered":"\n<p><em><em>Ka\u017ed\u00fd \u010dlovek t\u00fa\u017ei po zdravom die\u0165ati. Na zdravie v\u00e1\u0161ho potomka, okrem in\u00fdch faktorov, vpl\u00fdvaj\u00fa aj g\u00e9ny, ktor\u00e9 nos\u00edte.\u00a0 Existuje viacero ochoren\u00ed, ktor\u00e9 s\u00fa geneticky podmienen\u00e9. Medzi jednu zo vz\u00e1cne sa vyskytuj\u00facich por\u00fach patr\u00ed deficit D-bifunk\u010dn\u00e9ho prote\u00ednu (DBP). Toto ochorenie patr\u00ed medzi jedno z najz\u00e1va\u017enej\u0161\u00edch, pri\u010dom die\u0165a nie je schopn\u00e9 z\u00edska\u0165 ani z\u00e1kladn\u00e9 v\u00fdvojov\u00e9 m\u00ed\u013eniky, ak\u00fdmi je sledovanie pohybu o\u010dami a\u00a0ovl\u00e1danie hlavi\u010dky. Liek na toto ochorenie neexistuje, aj preto t\u00e1to porucha kon\u010d\u00ed skor\u00fdm \u00famrt\u00edm die\u0165a\u0165a. Vedomos\u0165, \u010di je \u010dlovek pren\u00e1\u0161a\u010dom pre dan\u00fa poruchu, v\u0161ak umo\u017e\u0148uje v pr\u00edpade pl\u00e1novania rodi\u010dovstva v\u010dasn\u00fd z\u00e1sah. Na\u0161i z\u00e1kazn\u00edci si n\u00e1jdu nov\u00fd v\u00fdsledok spojen\u00fd s genetick\u00fdm ochoren\u00edm v kateg\u00f3rii Status pren\u00e1\u0161a\u010da.<\/em> <em>Z v\u00fdsledku anal\u00fdzy DNA m\u00f4\u017eete zisti\u0165, \u010di ste pren\u00e1\u0161a\u010dom ochorenia.\u00a0<\/em><\/em><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>Ak\u00fd je v\u00fdznam skratky DBP?\u00a0<\/strong><\/strong><\/h2>\n\n\n\n<p>Skratka DBP ozna\u010duje enz\u00fdm zn\u00e1my ako D-bifunk\u010dn\u00fd prote\u00edn. Tento enz\u00fdm zohr\u00e1va d\u00f4le\u017eit\u00fa \u00falohu v odstra\u0148ovan\u00ed ur\u010dit\u00fdch typov mastn\u00fdch kysel\u00edn, napr\u00edklad mastn\u00fdch kysel\u00edn s\u00a0ve\u013emi dlh\u00fdm re\u0165azcom. Strata funkcie tohto enz\u00fdmu sp\u00f4sobuje, \u017ee nedoch\u00e1dza k\u00a0rozkladu t\u00fdchto typov mastn\u00fdch kysel\u00edn, n\u00e1sledne sa hromadia v\u00a0tele a\u00a0po\u0161kodzuj\u00fa bunky mozgu a\u00a0pe\u010dene. Preto jedn\u00fdm z\u00a0hlavn\u00fdch pr\u00edznakov tohto ochorenia je porucha funkci\u00ed nervov\u00e9ho syst\u00e9mu. <strong>Deficit DBP sa za\u010d\u00edna prejavova\u0165 u\u017e v\u00a0prv\u00fdch mesiacoch \u017eivota, pri\u010dom v\u00e4\u010d\u0161ina det\u00ed s\u00a0touto poruchou sa nedo\u017eije viac ako 2 rokov.<\/strong>\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>Ako vznik\u00e1 deficit DBP?\u00a0<\/strong><\/strong><\/h2>\n\n\n\n<p>Vznik tohto ochorenia je podmienen\u00fd dedi\u010dne, pri\u010dom sa ded\u00ed autozom\u00e1lne reces\u00edvnym sp\u00f4sobom. Na to, aby sa toto ochorenie prejavilo u\u00a0dan\u00e9ho jedinca, zvy\u010dajne doch\u00e1dza k zdedeniu mutovanej verzie g\u00e9nu HSD17B4 od oboch rodi\u010dov. V pr\u00edpade, \u017ee m\u00e1 \u010dlovek vo svojej DNA iba jednu po\u0161koden\u00fa verziu tohto g\u00e9nu, ochorenie sa u\u0148ho neprejav\u00ed, av\u0161ak dan\u00fd g\u00e9n m\u00f4\u017ee prenies\u0165 na svojich potomkov. <strong>V pr\u00edpade, \u017ee mut\u00e1ciu v rovnakom g\u00e9ne pren\u00e1\u0161a aj druh\u00fd rodi\u010d, existuje 25 % \u0161anca, \u017ee die\u0165a zded\u00ed od oboch rodi\u010dov po\u0161koden\u00fa verziu a teda u\u0148ho enz\u00fdm DBP nebude funk\u010dn\u00fd.<\/strong>\u00a0<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" src=\"https:\/\/dnaera.com\/hu\/wp-content\/uploads\/sites\/7\/2024\/02\/SK-1200x628-1-1024x536.png\" alt=\"\" class=\"wp-image-1389510\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>Pre\u010do je dobr\u00e9 pozna\u0165 t\u00fato genetick\u00fa predispoz\u00edciu?<\/strong><\/strong><\/h2>\n\n\n\n<p>Inform\u00e1cia, \u010di ste pren\u00e1\u0161a\u010dom tohto ochorenia, m\u00f4\u017ee by\u0165 nesmierne cenn\u00e1 najm\u00e4 pri pl\u00e1novan\u00ed rodi\u010dovstva. V\u00a0pr\u00edpade potvrdenia, \u017ee s\u00fa obaja rodi\u010dia pren\u00e1\u0161a\u010dmi pre deficit DBP, je mo\u017enos\u0165 sa priamo obr\u00e1ti\u0165 na klinick\u00e9ho genetika a\u00a0poradi\u0165 sa o \u010fal\u0161\u00edch mo\u017enostiach.\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>Nov\u00e1 predispoz\u00edcia u\u017e vo va\u0161ej anal\u00fdze<\/strong><\/strong><\/h2>\n\n\n\n<p>Prihl\u00e1ste sa do svojho \u00fa\u010dtu vo webovej aplik\u00e1cii a pozrite si svoj v\u00fdsledok. Nov\u00e1 predispoz\u00edcia automaticky zdarma pribudla v\u0161etk\u00fdm na\u0161im s\u00fa\u010dasn\u00fdm z\u00e1kazn\u00edkom. Bud\u00faci z\u00e1kazn\u00edci n\u00e1jdu t\u00fato predispoz\u00edciu v <a href=\"https:\/\/dnaera.com\/hu\/produkt\/dna-complex-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Complex teste<\/a> a <a href=\"https:\/\/dnaera.com\/hu\/produkt\/dna-health-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Health teste<\/a>. Pozna\u0165 svoje g\u00e9ny m\u00e1 zmysel v ka\u017edom veku. \u010c\u00edm sk\u00f4r, t\u00fdm lep\u0161ie. Za\u010dnite objavova\u0165 svoju DNA aj vy.<\/p>\n\n\n\n<p><strong>Zdroje<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/d-bifunctional-protein-deficiency\/#causes\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/medlineplus.gov\/genetics\/condition\/d-bifunctional-protein-deficiency\/#causes<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/rarediseases.oscar.ncsu.edu\/disease\/d-bifunctional-protein-deficiency\/about\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/rarediseases.oscar.ncsu.edu\/disease\/d-bifunctional-protein-deficiency\/about\/<\/a><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Ka\u017ed\u00fd \u010dlovek t\u00fa\u017ei po zdravom die\u0165ati. Na zdravie v\u00e1\u0161ho potomka, okrem in\u00fdch faktorov, vpl\u00fdvaj\u00fa aj g\u00e9ny, ktor\u00e9 nos\u00edte.\u00a0 Existuje viacero ochoren\u00ed, ktor\u00e9 s\u00fa geneticky podmienen\u00e9. Medzi jednu zo vz\u00e1cne sa vyskytuj\u00facich por\u00fach patr\u00ed deficit D-bifunk\u010dn\u00e9ho prote\u00ednu (DBP). Toto ochorenie patr\u00ed medzi jedno z najz\u00e1va\u017enej\u0161\u00edch, pri\u010dom die\u0165a nie je schopn\u00e9 z\u00edska\u0165 ani z\u00e1kladn\u00e9 v\u00fdvojov\u00e9 m\u00ed\u013eniky, ak\u00fdmi [&hellip;]<\/p>\n","protected":false},"author":869,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[58,59,111,63,30],"place-taxonomy":[],"class_list":["post-1389507","post","type-post","status-publish","format-standard","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-predispozicia","tag-zaujimavosti","tag-zdravie"],"acf":[],"views":957,"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Deficit DBP: Nov\u00fd v\u00fdsledok, ktor\u00fd by mal pozna\u0165 ka\u017ed\u00fd, kto pl\u00e1nuje rodi\u010dovstvo - DNA ERA HU<\/title>\n<meta name=\"description\" content=\"Inform\u00e1cia, \u010di ste pren\u00e1\u0161a\u010dom tohto ochorenia, m\u00f4\u017ee by\u0165 nesmierne cenn\u00e1 najm\u00e4 pri pl\u00e1novan\u00ed rodi\u010dovstva. V\u00a0pr\u00edpade potvrdenia, \u017ee s\u00fa obaja rodi\u010dia pren\u00e1\u0161a\u010dmi pre deficit DBP, je mo\u017enos\u0165 sa priamo obr\u00e1ti\u0165 na klinick\u00e9ho genetika a\u00a0poradi\u0165 sa o \u010fal\u0161\u00edch mo\u017enostiach.\u00a0\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"hu_HU\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Deficit DBP: Nov\u00fd v\u00fdsledok, ktor\u00fd by mal pozna\u0165 ka\u017ed\u00fd\" \/>\n<meta property=\"og:description\" content=\"Inform\u00e1cia, \u010di ste pren\u00e1\u0161a\u010dom tohto ochorenia, m\u00f4\u017ee by\u0165 nesmierne cenn\u00e1 najm\u00e4 pri pl\u00e1novan\u00ed rodi\u010dovstva. 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