{"id":1404404,"date":"2024-07-16T13:58:21","date_gmt":"2024-07-16T11:58:21","guid":{"rendered":"https:\/\/dnaera.com\/ro\/?p=1404404"},"modified":"2024-10-16T11:31:11","modified_gmt":"2024-10-16T09:31:11","slug":"glykogenoza-typu-ib-ako-to-vyzera-ked-bunka-strati-kluc-k-energii","status":"publish","type":"post","link":"https:\/\/dnaera.com\/ro\/blog\/glykogenoza-typu-ib-ako-to-vyzera-ked-bunka-strati-kluc-k-energii\/","title":{"rendered":"Glykogen\u00f3za typu Ib: Ako to vyzer\u00e1, ke\u010f bunka strat\u00ed k\u013e\u00fa\u010d k\u00a0energii?"},"content":{"rendered":"\n

\u017div\u00e9 organizmy vy\u017eaduj\u00fa neust\u00e1ly pr\u00edsun energie pre podporu \u017eivotne d\u00f4le\u017eit\u00fdch procesov. V na\u0161om tele ju v\u00e4\u010d\u0161ina buniek z\u00edskava z gluk\u00f3zy, ktor\u00e1 je z\u00e1kladn\u00fdm palivom pre metabolizmus. Gluk\u00f3za sa v organizme uklad\u00e1 vo forme glykog\u00e9nu, ktor\u00fd sl\u00fa\u017ei ako z\u00e1sob\u00e1re\u0148 energie. Ke\u010f telo potrebuje energiu, glykog\u00e9n sa rozklad\u00e1 na gluk\u00f3zu.<\/em><\/em><\/p>\n\n\n\n

Ale \u010do ak tento mechanizmus nefunguje spr\u00e1vne? \u010co ak bunka strat\u00ed \u201ek\u013e\u00fa\u010d\u201c k spr\u00e1vnemu spracovaniu glykog\u00e9nu a gluk\u00f3zy? Pr\u00e1ve toto sa deje pri glykogen\u00f3ze typu I, ktor\u00e1 sa na z\u00e1klade typu mutovan\u00e9ho g\u00e9nu del\u00ed na glykogen\u00f3zu typu Ia a Ib.<\/p>\n\n\n\n

Glykogen\u00f3za typu Ib je zriedkav\u00e9 dedi\u010dn\u00e9 ochorenie sp\u00f4soben\u00e9 mut\u00e1ciou v g\u00e9ne SLC37A4<\/em>, ktor\u00fd k\u00f3duje gluk\u00f3za-6-fosf\u00e1t translok\u00e1zu, potrebn\u00fa pri premene glykog\u00e9nu na gluk\u00f3zu. Ke\u010f tento mechanizmus nefunguje spr\u00e1vne, doch\u00e1dza k nadmern\u00e9mu hromadeniu glykog\u00e9nu a in\u00fdch metabolick\u00fdch medziproduktov v r\u00f4znych tkaniv\u00e1ch, \u010do sp\u00f4sobuje charakteristick\u00e9 pr\u00edznaky tohto ochorenia. <\/p>\n\n\n\n

GENETICK\u00c9 POZADIE<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

\u0160tandardne zded\u00edme jednu verziu g\u00e9nu od matky a jednu verziu g\u00e9nu od otca. Glykogen\u00f3za typu Ib sa ded\u00ed autozom\u00e1lne reces\u00edvnym sp\u00f4sobom, \u010do znamen\u00e1, \u017ee toto ochorenie sa zvykne prejavi\u0165 len vtedy, ke\u010f \u010dlovek nesie obe verzie mutovan\u00e9ho g\u00e9nu vo svojej DNA. \u0160tandardne \u010dlovek zded\u00ed tieto verzie g\u00e9nov od svojich rodi\u010dov, av\u0161ak vz\u00e1cne sa m\u00f4\u017eeme stretn\u00fa\u0165 aj so vznikom spont\u00e1nnych mut\u00e1ci\u00ed. <\/p>\n\n\n\n

KLINICK\u00c9 PR\u00cdZNAKY <\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Glykogen\u00f3za typu Ib ovplyv\u0148uje v\u00fdrazn\u00fdm sp\u00f4sobom \u017eivot jedinca zvy\u010dajne u\u017e od jeho ran\u00e9ho detstva. Toto ochorenie sa vyzna\u010duje viacer\u00fdmi klinick\u00fdmi pr\u00edznakmi:<\/p>\n\n\n\n

\u00b7   Hypoglyk\u00e9mia.<\/strong> K tomuto stavu doch\u00e1dza vtedy, ke\u010f je hladina cukru v krvi n\u00edzka, pri\u010dom m\u00f4\u017ee doch\u00e1dza\u0165 a\u017e k \u017eivot ohrozuj\u00facim z\u00e1chvatom.<\/p>\n\n\n\n

\u00b7   Zv\u00e4\u010d\u0161enie pe\u010dene (hepatomeg\u00e1lia).<\/strong> Akon\u00e1hle je mechanizmus premeny glykog\u00e9nu na gluk\u00f3zu po\u0161koden\u00fd, doch\u00e1dza k nadmern\u00e9mu hromadeniu tohto z\u00e1sobn\u00e9ho cukru v pe\u010deni a n\u00e1sledne k jej zv\u00e4\u010d\u0161eniu.<\/p>\n\n\n\n

\u00b7 \u00a0 Zn\u00ed\u017een\u00fd po\u010det neutrofilov v krvi (neutrop\u00e9nia).<\/strong> Neutrofily s\u00fa typom bielych krviniek, ktor\u00e9 s\u00fa nevyhnutn\u00e9 pre boj proti infekci\u00e1m. Ak je ich m\u00e1lo, telo je viac n\u00e1chyln\u00e9 na r\u00f4zne infekcie, \u010do m\u00f4\u017ee vies\u0165 k \u010dast\u00fdm a z\u00e1va\u017en\u00fdm chorob\u00e1m.

\u00b7 \u00a0 Poruchy rastu. <\/strong>Navy\u0161e, nelie\u010den\u00e9 deti \u010dasto zaost\u00e1vaj\u00fa v raste, maj\u00fa tzv. ,,b\u00e1bikovsk\u00fa tv\u00e1r\u201c s pln\u00fdmi l\u00edcami, relat\u00edvne tenk\u00e9 kon\u010datiny a vy\u010dnievaj\u00face brucho v d\u00f4sledku pr\u00edtomnosti hepatomeg\u00e1lie.<\/p>\n\n\n\n

Okrem spom\u00ednan\u00fdch pr\u00edznakov sa u pacientov m\u00f4\u017ee vyskytova\u0165 lakt\u00e1tov\u00e1 acid\u00f3za (hromadenie kyseliny mlie\u010dnej v tele), zv\u00e4\u010d\u0161en\u00e9 obli\u010dky (nefromeg\u00e1lia), \u010di z\u00e1palov\u00e9 ochorenie \u010driev.<\/p>\n\n\n\n

PRE\u010cO JE DOBR\u00c9 POZNA\u0164 T\u00daTO PREDISPOZ\u00cdCIU?<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Ak je \u010dlovek pren\u00e1\u0161a\u010dom, m\u00e1 jednu mutovan\u00fa verziu g\u00e9nu, \u010do pravdepodobne neovplyv\u0148uje jeho zdravotn\u00fd stav, ale m\u00f4\u017ee ma\u0165 vplyv na jeho potomkov. Ak s\u00fa obaja rodi\u010dia nosite\u013emi mutovan\u00e9ho g\u00e9nu, existuje 25 % \u0161anca, \u017ee ich die\u0165a zded\u00ed obe mutovan\u00e9 verzie a glykogen\u00f3za typu Ib sa u neho prejav\u00ed. Poznanie tejto predispoz\u00edcie v\u00e1m umo\u017e\u0148uje z\u00edska\u0165 cenn\u00e9 inform\u00e1cie pri pl\u00e1novan\u00ed rodi\u010dovstva a v pr\u00edpade potreby m\u00f4\u017eete kontaktova\u0165 klinick\u00e9ho genetika a poradi\u0165 sa o \u010fal\u0161\u00edch mo\u017enostiach.<\/p>\n\n\n\n

\"\"<\/a><\/figure>\n\n\n\n

Nov\u00fd v\u00fdsledok anal\u00fdzy<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Prihl\u00e1ste sa do svojich v\u00fdsledkov.<\/a> Nov\u00e1 predispoz\u00edcia je odteraz zadarmo dostupn\u00e1 pre v\u0161etk\u00fdch na\u0161ich z\u00e1kazn\u00edkov. Z\u00e1rove\u0148 ju bude ma\u0165 vo svojej anal\u00fdze ka\u017ed\u00fd bud\u00faci z\u00e1kazn\u00edk, ktor\u00fd vst\u00fapi do sveta DNA s DNA Complex testom<\/a> alebo DNA Health testom<\/a>. Spoznajte svoje predispoz\u00edcie aj vy.<\/p>\n\n\n\n

Zdroje<\/strong>: <\/p>\n\n\n\n

    \n
  1. Bali, D. S., El-Gharbawy, A., Austin, S., Pendyal, S., & Kishnani, P. S. (2021). Glycogen storage disease type I.<\/li>\n\n\n\n
  2. Szyma\u0144ska, E., Lipi\u0144ski, P., Rokicki, D., Ksi\u0105\u017cyk, J., & Tylki-Szyma\u0144ska, A. (2020). Over 20-Year follow-up of patients with hepatic glycogen Storage Diseases: single-center experience. Diagnostics, 10(5), 297.<\/li>\n\n\n\n
  3. Kishnani, P. S., Austin, S. L., Abdenur, J. E., Arn, P., Bali, D. S., Boney, A., Chung, W. K., Dagli, A. I., Dale, D., Koeberl, D., Somers, M. J., Wechsler, S. B., Weinstein, D. A., Wolfsdorf, J. I., Watson, M. S., & American College of Medical Genetics and Genomics (2014). Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genetics in medicine : official journal of the American College of Medical Genetics, 16(11), e1.<\/li>\n\n\n\n
  4. Sim, S. W., Weinstein, D. A., Lee, Y. M., & Jun, H. S. (2020). Glycogen storage disease type Ib: role of glucose\u20106\u2010phosphate transporter in cell metabolism and function. FEBS letters, 594(1), 3-18.<\/li>\n\n\n\n
  5. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1312\/<\/a><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

    \u017div\u00e9 organizmy vy\u017eaduj\u00fa neust\u00e1ly pr\u00edsun energie pre podporu \u017eivotne d\u00f4le\u017eit\u00fdch procesov. V na\u0161om tele ju v\u00e4\u010d\u0161ina buniek z\u00edskava z gluk\u00f3zy, ktor\u00e1 je z\u00e1kladn\u00fdm palivom pre metabolizmus. Gluk\u00f3za sa v organizme uklad\u00e1 vo forme glykog\u00e9nu, ktor\u00fd sl\u00fa\u017ei ako z\u00e1sob\u00e1re\u0148 energie. Ke\u010f telo potrebuje energiu, glykog\u00e9n sa rozklad\u00e1 na gluk\u00f3zu. Ale \u010do ak tento mechanizmus nefunguje spr\u00e1vne? […]<\/p>\n","protected":false},"author":869,"featured_media":1404407,"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-1404404","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-predispozicia","tag-zaujimavosti","tag-zdravie"],"acf":[],"views":1784,"_links":{"self":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1404404","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/users\/869"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/comments?post=1404404"}],"version-history":[{"count":2,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1404404\/revisions"}],"predecessor-version":[{"id":1404450,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1404404\/revisions\/1404450"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media\/1404407"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media?parent=1404404"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/categories?post=1404404"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/tags?post=1404404"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/place-taxonomy?post=1404404"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}