{"id":2380,"date":"2019-06-24T00:00:00","date_gmt":"2019-06-24T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2380"},"modified":"2019-06-24T00:00:00","modified_gmt":"2019-06-24T00:00:00","slug":"czteroletnie-badanie-ujawnia-znaczenie-lyso-gb1-w-monitorowaniu-pacjentow-z-choroba-gauchera","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/four-year-study-reveals-importance-of-lyso-gb1-in-monitoring-gaucher-disease-patients\/","title":{"rendered":"Czteroletnie badanie ujawnia znaczenie Lyso-Gb1 w monitorowaniu pacjent\u00f3w z chorob\u0105 Gauchera"},"content":{"rendered":"<p>W artykule opublikowanym w czerwcu 2019 r. w czasopi\u015bmie <em>Mi\u0119dzynarodowe czasopismo nauk molekularnych<\/em>, Czteroletnie badanie 81 dzieci cierpi\u0105cych na chorob\u0119 Gauchera (GD) o r\u00f3\u017cnym nasileniu wykaza\u0142o, \u017ce glukozylosfingozyna (lizo-Gb1) jest niezwykle dok\u0142adnym biomarkerem s\u0142u\u017c\u0105cym do monitorowania dzieci cierpi\u0105cych na GD.<\/p>\n<p>Badanie \u2013 pierwsze tego rodzaju, maj\u0105ce na celu ocen\u0119 roli lizo-Gb1 w monitorowaniu leczonych i nieleczonych dzieci \u2013 identyfikuje istotn\u0105 rol\u0119, jak\u0105 lizo-Gb1 mo\u017ce odgrywa\u0107 w monitorowaniu leczenia dzieci. Pocz\u0105wszy od 2014 roku, badanie ocenia\u0142o poziom lizo-Gb1 u dzieci obj\u0119tych opiek\u0105 Centrum Medycznego Shaare Zedek w Jerozolimie w Izraelu, wykorzystuj\u0105c opatentowany biomarker opracowany przez CENTOGENE. Wcze\u015bniejsze badania nad lizo-Gb1 jako biomarkerem koncentrowa\u0142y si\u0119 wy\u0142\u0105cznie na doros\u0142ych pacjentach z GD.<\/p>\n<p>Wyniki badania ujawni\u0142y:<\/p>\n<p>Istotna korelacja wyst\u0119puje pomi\u0119dzy:<\/p>\n<ul>\n<li>lizo-Gb1 i liczba p\u0142ytek krwi u dzieci z \u0142agodn\u0105 GD1<\/li>\n<li>poziom lizo-Gb1 i hemoglobiny u dzieci z ci\u0119\u017ck\u0105 cukrzyc\u0105 typu 1<\/li>\n<\/ul>\n<p>Istotna odwrotna korelacja pomi\u0119dzy:<\/p>\n<ul>\n<li>lizo-Gb1 i liczba p\u0142ytek krwi u nieleczonych dzieci<\/li>\n<li>poziom lizo-Gb1 i hemoglobiny u leczonych dzieci<\/li>\n<\/ul>\n<p>\u201cWcze\u015bniej udowodniono, \u017ce Lyso-Gb1 jest wysoce czu\u0142ym i swoistym biomarkerem w diagnostyce i monitorowaniu doros\u0142ych pacjent\u00f3w cierpi\u0105cych na chorob\u0119 Gauchera\u201d \u2013 skomentowa\u0142 prof. dr hab. Arndt Rolfs, dyrektor generalny CENTOGENE i wsp\u00f3\u0142autor badania. \u201cBiomarkery s\u0105 niezwykle wa\u017cne w diagnostyce i monitorowaniu leczenia pacjent\u00f3w z rzadkimi chorobami, a w szczeg\u00f3lno\u015bci w przypadku dzieci cierpi\u0105cych na chorob\u0119 Gauchera zauwa\u017cyli\u015bmy, \u017ce Lyso-Gb1 jest niezwykle skutecznym biomarkerem w monitorowaniu leczenia \u2013 i rzeczywi\u015bcie powinien by\u0107 w\u0142\u0105czony do rutynowej kontroli tych pacjent\u00f3w\u201d.\u201d<\/p>\n<p>\u201cPost\u0119puj\u0105cy wzrost poziomu lizo-Gb1 u nieleczonych dzieci z chorob\u0105 Gauchera sugeruje, \u017ce pacjenci ci powinni otrzyma\u0107 enzymatyczn\u0105 terapi\u0119 zast\u0119pcz\u0105\u201d \u2013 doda\u0142 prof. dr hab. Ari Zimran z Centrum Medycznego Shaare Zedek Uniwersytetu Hebrajskiego w Jerozolimie, uznany ekspert w dziedzinie choroby Gauchera i wsp\u00f3\u0142autor badania. \u201cTo mi\u0119dzynarodowe badanie wykaza\u0142o korelacj\u0119 mi\u0119dzy poziomem lizo-Gb1 a ci\u0119\u017cko\u015bci\u0105 choroby u dzieci cierpi\u0105cych na chorob\u0119 Gauchera oraz znaczenie stosowania tego biomarkera w monitorowaniu dzieci leczonych i nieleczonych\u201d.\u201d<\/p>\n<p>Choroba Gauchera nale\u017cy do najcz\u0119stszych, dziedziczonych recesywnie chor\u00f3b spichrzeniowych lizosomalnych. Ich przyczyn\u0105 jest niedob\u00f3r enzymu glukocerebrozydazy.<\/p>\n<p>Pe\u0142n\u0105 wersj\u0119 artyku\u0142u mo\u017cna pobra\u0107 <a href=\"https:\/\/www.mdpi.com\/1422-0067\/20\/12\/3033\" target=\"_blank\" title=\"Pobierz artyku\u0142\">Tutaj<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"<p>In a paper published in June 2019 in the International Journal of Molecular Sciences, a four-year study of 81 children [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2380","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Four Year Study Reveals Importance of 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