{"id":1375556,"date":"2024-02-15T13:00:12","date_gmt":"2024-02-15T12:00:12","guid":{"rendered":"https:\/\/dev.dnaera.com\/cs\/?p=1375556"},"modified":"2024-03-25T13:13:55","modified_gmt":"2024-03-25T12:13:55","slug":"deficit-dbp","status":"publish","type":"post","link":"https:\/\/dev.dnaera.com\/cs\/blog\/deficit-dbp\/","title":{"rendered":"Deficit DBP: nov\u00fd v\u00fdsledek, kter\u00fd by m\u011bl zn\u00e1t ka\u017ed\u00fd, kdo pl\u00e1nuje rodi\u010dovstv\u00ed\u00a0"},"content":{"rendered":"\n<p><em><em><em>Ka\u017ed\u00fd \u010dlov\u011bk tou\u017e\u00ed po zdrav\u00e9m d\u00edt\u011bti. Zdrav\u00ed va\u0161ich potomk\u016f ovliv\u0148uj\u00ed mimo jin\u00e9 tak\u00e9 geny, kter\u00e9 v sob\u011b nos\u00edte.\u00a0 Existuje v\u00edcero geneticky podm\u00edn\u011bn\u00fdch onemocn\u011bn\u00ed. Jednou ze vz\u00e1cn\u011b se vyskytuj\u00edc\u00edch poruch je deficit D-funk\u010dn\u00edho proteinu (DBP). Toto onemocn\u011bn\u00ed je jedno z nejz\u00e1va\u017en\u011bj\u0161\u00edch, proto\u017ee d\u00edt\u011b nen\u00ed schopn\u00e9 dos\u00e1hnout ani z\u00e1kladn\u00edch v\u00fdvojov\u00fdch miln\u00edk\u016f, jako je sledov\u00e1n\u00ed pohybu o\u010dima a ovl\u00e1d\u00e1n\u00ed hlavy. Na toto onemocn\u011bn\u00ed neexistuje \u017e\u00e1dn\u00fd l\u00e9k, proto tak\u00e9 tato porucha kon\u010d\u00ed p\u0159ed\u010dasnou smrt\u00ed d\u00edt\u011bte. Znalost toho, zda je \u010dlov\u011bk nositelem dan\u00e9 poruchy, v\u0161ak umo\u017e\u0148uje v\u010dasn\u00fd z\u00e1sah v p\u0159\u00edpad\u011b pl\u00e1nov\u00e1n\u00ed rodiny. Na\u0161i z\u00e1kazn\u00edci si najdou nov\u00fd v\u00fdsledek spojen\u00fd s genetick\u00fdm onemocn\u011bn\u00edm v kategorii Status p\u0159ena\u0161e\u010de. To, zda jste p\u0159ena\u0161e\u010dem onemocn\u011bn\u00ed, zjist\u00edte z v\u00fdsledk\u016f anal\u00fdzy DNA.\u00a0<\/em><\/em><\/em><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong>Co znamen\u00e1 zkratka DBP?\u00a0<\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p>Zkratka DBP ozna\u010duje enzym zn\u00e1m\u00fd jako D-bifunk\u010dn\u00ed protein. Tento enzym hraje d\u016fle\u017eitou roli p\u0159i odstra\u0148ov\u00e1n\u00ed n\u011bkter\u00fdch typ\u016f mastn\u00fdch kyselin, nap\u0159\u00edklad mastn\u00fdch kyselin s velmi dlouh\u00fdm \u0159et\u011bzcem. Ztr\u00e1ta funkce tohoto enzymu zp\u016fsobuje, \u017ee nedoch\u00e1z\u00ed k rozkladu t\u011bchto typ\u016f mastn\u00fdch kyselin, v d\u016fsledku \u010deho\u017e se hromad\u00ed v t\u011ble a po\u0161kozuj\u00ed bu\u0148ky mozku a jater. Proto je jedn\u00edm z hlavn\u00edch p\u0159\u00edznak\u016f tohoto onemocn\u011bn\u00ed porucha funkc\u00ed nervov\u00e9ho syst\u00e9mu. Deficit DBP se za\u010d\u00edn\u00e1 projevovat u\u017e v prvn\u00edch m\u011bs\u00edc\u00edch \u017eivota, p\u0159i\u010dem\u017e v\u011bt\u0161ina d\u011bt\u00ed s touto poruchou se nedo\u017eije v\u00edce ne\u017e dvou let.\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>Jak vznik\u00e1 deficit DBP?\u00a0<\/strong><\/strong><\/h2>\n\n\n\n<p>Vznik tohoto onemocn\u011bn\u00ed je podm\u00edn\u011bn\u00fd d\u011bdi\u010dn\u011b, p\u0159i\u010dem\u017e se d\u011bd\u00ed autozom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem. Aby se onemocn\u011bn\u00ed u dan\u00e9ho jedince projevilo, je obvykle nutn\u00e9 zd\u011bdit mutovanou verzi genu HSD17B4 od obou rodi\u010d\u016f. Pokud m\u00e1 \u010dlov\u011bk ve sv\u00e9 DNA pouze jednu po\u0161kozenou verzi tohoto genu, nemoc se u n\u011bj nerozvine, ale m\u016f\u017ee dan\u00fd gen p\u0159en\u00e9st na sv\u00e9 potomky. Pokud mutaci ve stejn\u00e9m genu nese i druh\u00fd rodi\u010d, existuje 25% pravd\u011bpodobnost, \u017ee d\u00edt\u011b zd\u011bd\u00ed po\u0161kozenou verzi od obou rodi\u010d\u016f a enzym DBP u n\u011bj tedy nebude funk\u010dn\u00ed.\u00a0<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"536\" src=\"https:\/\/dev.dnaera.com\/cs\/wp-content\/uploads\/sites\/3\/2024\/02\/CZ-1200x628_-1024x536.png\" alt=\"\" class=\"wp-image-1375559\" srcset=\"https:\/\/dev.dnaera.com\/cs\/wp-content\/uploads\/sites\/3\/2024\/02\/CZ-1200x628_-1024x536.png 1024w, https:\/\/dev.dnaera.com\/cs\/wp-content\/uploads\/sites\/3\/2024\/02\/CZ-1200x628_-300x157.png 300w, https:\/\/dev.dnaera.com\/cs\/wp-content\/uploads\/sites\/3\/2024\/02\/CZ-1200x628_-768x402.png 768w, https:\/\/dev.dnaera.com\/cs\/wp-content\/uploads\/sites\/3\/2024\/02\/CZ-1200x628_-600x314.png 600w, https:\/\/dev.dnaera.com\/cs\/wp-content\/uploads\/sites\/3\/2024\/02\/CZ-1200x628_.png 1200w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>Pro\u010d je dobr\u00e9 zn\u00e1t tuto genetickou predispozici?<\/strong><\/strong><\/h2>\n\n\n\n<p>Informace o tom, zda jste p\u0159ena\u0161e\u010dem tohoto onemocn\u011bn\u00ed, m\u016f\u017ee b\u00fdt nesm\u00edrn\u011b cenn\u00e1 zejm\u00e9na p\u0159i pl\u00e1nov\u00e1n\u00ed rodi\u010dovstv\u00ed. Pokud se potvrd\u00ed, \u017ee oba rodi\u010de jsou p\u0159ena\u0161e\u010di deficitu DBP, je mo\u017en\u00e9 se obr\u00e1tit p\u0159\u00edmo na klinick\u00e9ho genetika a probrat s n\u00edm dal\u0161\u00ed mo\u017enosti.\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>Nov\u00e1 predispozice je ji\u017e ve va\u0161\u00ed anal\u00fdze<\/strong><\/strong><\/h2>\n\n\n\n<p>P\u0159ihlaste se ke sv\u00e9mu \u00fa\u010dtu ve webov\u00e9 aplikaci a pod\u00edvejte se na sv\u016fj v\u00fdsledek. Nov\u00e1 predispozice byla automaticky zdarma p\u0159id\u00e1na v\u0161em na\u0161im st\u00e1vaj\u00edc\u00edm z\u00e1kazn\u00edk\u016fm. Budouc\u00ed z\u00e1kazn\u00edci najdou tuto predispozici v testu <a href=\"https:\/\/dev.dnaera.com\/cs\/produkt\/dna-complex-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Complex<\/a> a testu <a href=\"https:\/\/dev.dnaera.com\/cs\/produkt\/dna-health-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Health<\/a>. Zn\u00e1t svoje geny m\u00e1 smysl v ka\u017ed\u00e9m v\u011bku. \u010c\u00edm d\u0159\u00edve, t\u00edm l\u00e9pe. Za\u010dn\u011bte objevovat svoji DNA i vy.<\/p>\n\n\n\n<p><strong>Zdroje<\/strong><\/p>\n\n\n\n<ul 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<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Ka\u017ed\u00fd \u010dlov\u011bk tou\u017e\u00ed po zdrav\u00e9m d\u00edt\u011bti. Zdrav\u00ed va\u0161ich potomk\u016f ovliv\u0148uj\u00ed mimo jin\u00e9 tak\u00e9 geny, kter\u00e9 v sob\u011b nos\u00edte.\u00a0 Existuje v\u00edcero geneticky podm\u00edn\u011bn\u00fdch onemocn\u011bn\u00ed. Jednou ze vz\u00e1cn\u011b se vyskytuj\u00edc\u00edch poruch je deficit D-funk\u010dn\u00edho proteinu (DBP). Toto onemocn\u011bn\u00ed je jedno z nejz\u00e1va\u017en\u011bj\u0161\u00edch, proto\u017ee d\u00edt\u011b nen\u00ed schopn\u00e9 dos\u00e1hnout ani z\u00e1kladn\u00edch v\u00fdvojov\u00fdch miln\u00edk\u016f, jako je sledov\u00e1n\u00ed pohybu o\u010dima a [&hellip;]<\/p>\n","protected":false},"author":869,"featured_media":1375558,"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":[58,59,100,101],"place-taxonomy":[86],"class_list":["post-1375556","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-predispozice","tag-zdravi"],"acf":[],"views":182,"_links":{"self":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1375556","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/users\/869"}],"replies":[{"embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/comments?post=1375556"}],"version-history":[{"count":4,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1375556\/revisions"}],"predecessor-version":[{"id":1375589,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1375556\/revisions\/1375589"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/media\/1375558"}],"wp:attachment":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/media?parent=1375556"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/categories?post=1375556"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/tags?post=1375556"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1375556"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}