{"id":135106,"date":"2026-03-22T08:17:08","date_gmt":"2026-03-22T08:17:08","guid":{"rendered":"https:\/\/www.europesays.com\/ee\/135106\/"},"modified":"2026-03-22T08:17:08","modified_gmt":"2026-03-22T08:17:08","slug":"rauasalvestustobi-on-aladiagnoositud-haigus-teadlased-uurisid-miks-kogevad-inimesed-seda-vaga-erinevalt","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ee\/135106\/","title":{"rendered":"Rauasalvestust\u00f5bi on aladiagnoositud haigus. Teadlased uurisid, miks kogevad inimesed seda v\u00e4ga erinevalt"},"content":{"rendered":"<p>Eesti teadlased uurisid, miks see nii on, kasutades Eesti Geenivaramu ja \u00dchendkuningriigi Biopanga andmeid. Uuringu keskmes oli k\u00fcsimus, kuidas erinevad hemokromatoosiga seotud geenivariandid tegelikult p\u00e4riselus avalduvad.<\/p>\n<p>T\u00f6\u00f6 kahe biopanga andmetega<\/p>\n<p>HFE-geeni defektist tulenev p\u00e4rilik hemokromatoos on P\u00f5hja-Euroopa k\u00f5ige sagedasem autosoom-retsessiivne haigus, mis hinnanguliselt puudutab \u00fchte inimest 150\u2013300st. Teadlaste s\u00f5nul on see t\u00f5en\u00e4oliselt aladiagnoositud, kuigi ravi on olemas.<\/p>\n<p><img decoding=\"async\" src=\"https:\/\/www.europesays.com\/ee\/wp-content\/uploads\/2026\/03\/8ef79385-9fda-4b05-b37e-ca705c10dbec.jpg\" loading=\"lazy\" alt=\"Miriam Nurm\"\/><\/p>\n<p>\u201eP\u00e4riliku hemokromatoosi n\u00e4ol on tegu haigusega, millel on kirju s\u00fcmptomaatika ning geenivariantide avaldumise ennustamine on keeruline. Tahtsime uurida, kuidas see haigus avaldub Eesti geenivaramu geenidoonoritel, kes kannavad m\u00f5nda peamisest kolmest p\u00e4riliku hemokromatoosi geenivariandist,\u201c r\u00e4\u00e4kis Tartu \u00dclikooli genoomika instituudi geneetika nooremteadur Miriam Nurm.<\/p>\n<p>Erinevad anal\u00fc\u00fcsid andsid uurijatele infot selle kohta, millised haigused ja s\u00fcmptomid on nende geenivariandite kandjatel tavalisemad ning millised geenid v\u00f5ivad haiguse avaldumist m\u00f5jutada. Selleks v\u00f5rreldi diagnoose kogu biopanga ulatuses, uuriti v\u00f5imalikke haigusega seotud geenivariante ning kaardistati t\u00e4psemalt, millised variandid v\u00f5ivad haigust p\u00f5hjustada. Sama l\u00e4henemist kasutati ka \u00dchendkuningriigi Biopanga andmete peal, et tulemusi omavahel v\u00f5rrelda.<\/p>\n<p>Seni v\u00e4heoluliseks peetud geenivariandi t\u00e4htsus<\/p>\n<p>Uuring n\u00e4itas, et varasemalt kliiniliselt v\u00e4heoluliseks peetud geenivariandi HFE p.S65C kandjatel esineb kontrollidega v\u00f5rreldes rohkem kliinilisi s\u00fcmptomeid, eesk\u00e4tt seotud naha ja urogenitaals\u00fcsteemiga. Miriam Nurm selgitas, et n\u00e4iteks mitmesuguseid eesn\u00e4\u00e4rme probleeme diagnoositi kahe patogeense geenivariandi, millest v\u00e4hemalt \u00fcks oli S65C, kandjatel esimest korda keskmiselt 11 aastat varem kui neil, kellel seda geenivarianti ei ole. <\/p>\n<p>\u201eLeidsime ka uue ja tugeva m\u00f5juga geenivariandi (CP rs61733458), mis v\u00f5ib m\u00f5jutada nii raua\u2011 kui vaseainevahetusega seotud haiguste avaldumist ja kulgu,\u201c lisas Nurm. Selleks viisid teadlased l\u00e4bi genoomi\u00fclese seoseuuringu, kus selgitati, millised geenivariandid m\u00f5jutavad vase ja raua ainevahetust reguleeriva valgu taset v\u00f5i funktsiooni. Nurm lisab, et varasemalt on seda geenivarianti leitud Parkinsoni t\u00f5ve ja mittealkohoolse rasvmaksa diagnoosiga patsientidel.<\/p>\n","protected":false},"excerpt":{"rendered":"Eesti teadlased uurisid, miks see nii on, kasutades Eesti Geenivaramu ja \u00dchendkuningriigi Biopanga andmeid. Uuringu keskmes oli k\u00fcsimus,&hellip;\n","protected":false},"author":2,"featured_media":135107,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":"","_share_on_mastodon":"0"},"categories":[12],"tags":[26,27,37,33,35,34,36,31,32,21,60938,28,29,19,25,60937,60939,60936,23,24,22,20,30],"class_list":["post-135106","post","type-post","status-publish","format-standard","has-post-thumbnail","category-eesti","tag-breaking-news","tag-breakingnews","tag-ee","tag-eesti","tag-eesti-keel","tag-estonia","tag-estonian","tag-featured-news","tag-featurednews","tag-headlines","tag-hemokromatoos","tag-latest-news","tag-latestnews","tag-news","tag-populaarseimad-lood","tag-rauapuudus","tag-rauasalvestustobi","tag-rauavaegusaneemia","tag-top-stories","tag-topstories","tag-uldised-uudised","tag-uudised","tag-viimased-uudised"],"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@ee\/116271844120480533","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/posts\/135106","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/comments?post=135106"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/posts\/135106\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/media\/135107"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/media?parent=135106"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/categories?post=135106"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/tags?post=135106"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}