{"id":665511,"date":"2025-12-10T06:16:04","date_gmt":"2025-12-10T06:16:04","guid":{"rendered":"https:\/\/microscopemedia.com\/?p=665511"},"modified":"2025-12-10T06:16:04","modified_gmt":"2025-12-10T06:16:04","slug":"un-donator-de-sperma-cu-o-mutatie-genetica-grava-devine-tata-pentru-aproape-200-de-copii-in-europa","status":"publish","type":"post","link":"https:\/\/microscopemedia.com\/?p=665511","title":{"rendered":"Un donator de sperm\u0103 cu o muta\u021bie genetic\u0103 grav\u0103, devine tat\u0103 pentru aproape 200 de copii \u00een Europa"},"content":{"rendered":"
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Un donator de sperm\u0103 care avea, f\u0103r\u0103 s\u0103 \u0219tie, o muta\u021bie a genei TP53, responsabil\u0103 cu prevenirea transform\u0103rii celulelor \u00een celule canceroase, a contribuit la conceperea a cel pu\u021bin 197 de copii<\/strong> \u00een clinici de fertilitate din Europa, arat\u0103 o ampl\u0103 investiga\u021bie realizat\u0103 de 14 institu\u021bii de pres\u0103 publice, inclusiv BBC<\/a>.<\/p>\n

De\u0219i b\u0103rbatul este considerat s\u0103n\u0103tos, p\u00e2n\u0103 la 20% din spermatozoizii s\u0103i poart\u0103 muta\u021bia asociat\u0103 cu sindromul Li-Fraumeni, o afec\u021biune care confer\u0103 un risc extrem de ridicat de cancer pe parcursul vie\u021bii.<\/p>\n

Copiii concepu\u021bi cu spermatozoizii afecta\u021bi au muta\u021bia \u00een toate celulele corpului, iar riscul lor de cancer, inclusiv cancere osoase, cerebrale, leucemii sau cancer mamar, poate ajunge la 90%.<\/p>\n

Unii copii au fost deja diagnostica\u021bi cu cancer, iar o parte au dezvoltat chiar dou\u0103 tipuri distincte, a declarat dr. Edwige Kasper, genetician la Spitalul Universitar din Rouen.<\/p>\n

\u201eAvem mul\u021bi copii care au dezvoltat deja cancer\u2026 iar unii au murit la v\u00e2rste foarte fragede\u201d<\/strong>, a spus ea.<\/p>\n

Donatorul, care a \u00eenceput s\u0103 doneze \u00een 2005, era student la vremea respectiv\u0103 \u0219i a trecut screeningurile standard, \u00een condi\u021biile \u00een care muta\u021bia ap\u0103ruse spontan \u00een unele dintre celulele sale \u00eenainte de na\u0219tere.<\/p>\n

Majoritatea corpului s\u0103u nu con\u021bine forma periculoas\u0103 a genei, ceea ce a f\u0103cut ca testele obi\u0219nuite s\u0103 nu o detecteze.<\/p>\n

European Sperm Bank, institu\u021bia danez\u0103 care a distribuit materialul genetic, a admis c\u0103 donatorul a fost folosit de un num\u0103r \u201eprea mare\u201d de ori \u00een unele \u021b\u0103ri.<\/p>\n

Spermatozoizii s\u0103i au ajuns la 67 de clinici din 14 \u021b\u0103ri, printre care Belgia, Spania, Germania, Grecia sau Islanda.<\/p>\n

Nu exist\u0103 indicii c\u0103 sperma din acest donator ar fi fost v\u00e2ndut\u0103 direct \u00een Marea Britanie, \u00eens\u0103 unele femei britanice au c\u0103l\u0103torit \u00een Danemarca pentru tratament, iar acestea au fost informate, a confirmat Autoritatea Britanic\u0103 pentru Fertilizare Uman\u0103.<\/p>\n

\u00cen Belgia<\/strong>, unde un donator poate fi folosit pentru maximum \u0219ase familii, sperma lui a fost utilizat\u0103 pentru 38 de femei, cu care s-au n\u0103scut 53 de copii, \u00eenc\u0103lc\u00e2nd limitele legale.<\/p>\n

Exper\u021bii afirm\u0103 c\u0103 situa\u021bia ridic\u0103 probleme serioase legate de reglementarea interna\u021bional\u0103.<\/p>\n

Nu exist\u0103 o legisla\u021bie global\u0103 privind num\u0103rul maxim de familii care pot utiliza acela\u0219i donator, iar clinicile depind tot mai mult de marile b\u0103nci interna\u021bionale de sperm\u0103, a explicat prof. Allan Pacey, de la Universitatea din Manchester.<\/p>\n

\u201eEste imposibil s\u0103 elimini complet riscul genetic. Nu po\u021bi testa pentru orice\u201d, a spus el.<\/p>\n

Pentru familiile afectate, povara este de durat\u0103.<\/p>\n

Fiecare copil purt\u0103tor al muta\u021biei necesit\u0103 RMN anual al \u00eentregului corp \u0219i al creierului, ecografii periodice \u0219i, \u00een cazul fetelor, luarea \u00een calcul a mastectomiei preventive.<\/p>\n","protected":false},"excerpt":{"rendered":"

Un donator de sperm\u0103 care avea, f\u0103r\u0103 s\u0103 \u0219tie, o muta\u021bie a genei TP53, responsabil\u0103 cu prevenirea transform\u0103rii celulelor \u00een celule canceroase, a contribuit la conceperea a cel pu\u021bin 197 … Read More<\/a><\/p>\n","protected":false},"author":1,"featured_media":665512,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"Default","format":"standard","meta":[],"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts\/665511"}],"collection":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=665511"}],"version-history":[{"count":0,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts\/665511\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/media\/665512"}],"wp:attachment":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=665511"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=665511"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=665511"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}