Tartu \u00dclikooli meditsiiniteaduste valdkonna inimese geneetika t\u00f6\u00f6r\u00fchm tuvastas geeni, mille defekt v\u00f5ib p\u00f5hjustada lootel s\u00fcdame v\u00e4\u00e4rarendeid. MGRN1\u00a0geeni pole varem seostatud inimese varajase arengu ega \u00fchegi haigusega. Avastus aitab arstidel tulevikus sarnaste juhtumite korral haigust paremini tuvastada ning parandada peredele pakutavat n\u00f5ustamist ja ravi.<\/p>\n
Avastus s\u00fcndis \u00fche Eesti pere geneetilise uurimise k\u00e4igus. Peres oli olnud kaks rasedust, mis katkestati p\u00e4rast seda, kui ultraheliuuringul tuvastati loodetel t\u00f5sised arenguh\u00e4ired. Patoloogiline uuring t\u00f5i m\u00f5lemal lootel esile s\u00fcdame v\u00e4\u00e4rarendid ja \u00fchel juhul ka siseorganite vale paiknemise.\u00a0<\/p>\n
Samas kasvas peres juba kaks tervet last. Nii j\u00f5udiski pere geneetiline materjal Tartu \u00dclikooli inimese geneetika lektori Laura Kasaku\u00a0t\u00f6\u00f6lauale.\u00a0<\/p>\n
\u201eKliinilises praktikas oli loodetele ja vanematele tehtud geneetilisi teste, kuid need ei n\u00e4idanud midagi eriskummalist. See on ka ootusp\u00e4rane, sest uuriti juba teadaolevaid seoseid,\u201c selgitas Kasak. \u201eSeega hakkasime v\u00e4\u00e4rarengute p\u00f5hjust mujalt otsima.\u201c<\/p>\n
Kuna m\u00f5lemad vanemad olid terved, ent loodetel esinesid sarnase pildiga v\u00e4\u00e4rarengud, kahtlustas Kasak, et tegu v\u00f5ib olla autosoom-retsessiivselt p\u00e4randuva geneetilise muutusega. See t\u00e4hendab, et haigus avaldub ainult siis, kui laps p\u00e4rib kummaltki vanemalt vigase geenivariandi.<\/p>\n
Anal\u00fc\u00fcsis ilmneski, et m\u00f5lemad vanemad kannavad haruldast retsessiivset MGRN1 geeni, mida pole seni p\u00f5hjalikult uuritud, sest inimestel ei ole seda seostatud \u00fchegi kindla haigusega. \u201eVeelgi haruldasem on see, et kaks sama variandi kandjat kokku saavad,\u201c t\u00f5des Kasak.\u00a0<\/p>\n
Teadlaste teooriat toetas pere tervete laste testimine: \u00fchelgi neist polnud kahte vigast geeni. Lisakinnitust andsid ka hiiremudelite uuringud, mis n\u00e4itasid, et vigane MGRN1 geen p\u00f5hjustab n\u00e4rilistel sarnaseid v\u00e4\u00e4rarenguid ja raseduse katkemist.<\/p>\n
Leid tekitas teadlastes kahetisi tundeid. \u201e\u00dchelt poolt on v\u00e4ga raske, sest tunned perele kaasa ja m\u00f5tled, kui eba\u00f5iglane on selline juhus. Teisalt r\u00f5\u00f5mustad teadusliku avastuse \u00fcle, mis aitab ehk tulevikus sarnaseid olukordi varakult \u00e4ra tunda,\u201c t\u00f5des Kasak.\u00a0<\/p>\n
Kasaku s\u00f5nul tuleks geeni kindlasti edasi uurida ja teha lisakatseid. K\u00f5igepealt on vajalik aga avastust teaduskogukonnaga jagada, et ka teised oskaksid seost m\u00e4rgata ja sellest tulenevaid v\u00f5imalusi edasi arendada.<\/p>\n
Uut leidu k\u00e4sitlev artikkel \u201eMGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans\u201c<\/a>\u00a0avaldati rahvusvahelises teadusajakirjas Journal of Medical Genetics.\u00a0 \n\tRelated\n<\/p>\n \t\tPost navigation<\/p>\n","protected":false},"excerpt":{"rendered":"Tartu \u00dclikooli meditsiiniteaduste valdkonna inimese geneetika t\u00f6\u00f6r\u00fchm tuvastas geeni, mille defekt v\u00f5ib p\u00f5hjustada lootel s\u00fcdame v\u00e4\u00e4rarendeid. MGRN1\u00a0geeni pole…\n","protected":false},"author":2,"featured_media":140594,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":"","_share_on_mastodon":"0"},"categories":[12],"tags":[26,27,37,33,35,34,36,31,32,51199,21,28,29,64217,19,25,47661,23,24,22,20,30],"class_list":["post-140593","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-geen","tag-headlines","tag-latest-news","tag-latestnews","tag-laura-kasaku","tag-news","tag-populaarseimad-lood","tag-tartu-u00dclikool","tag-top-stories","tag-topstories","tag-uldised-uudised","tag-uudised","tag-viimased-uudised"],"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@ee\/116310520882411958","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/posts\/140593","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=140593"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/posts\/140593\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/media\/140594"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/media?parent=140593"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/categories?post=140593"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ee\/wp-json\/wp\/v2\/tags?post=140593"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Loe teisi tervise teemalisi artikleid\u00a0SIIT<\/a><\/p>\n