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  • 1 Semmelweis Egyetem, Általános Orvostudományi Kar I. Szülészeti és Nőgyógyászati Klinika Budapest Baross utca 27. 1088

A velőcső-záródási rendellenességek a leggyakoribb és legsúlyosabb fejlődési rendellenességek közé tartoznak. A csoportba tartozó malformatiók multifaktoriális kóreredete a környezeti hatásokon túl a genetikai tényezők jelentőségére hívja fel a figyelmet. Számos tanulmány született már az idegrendszeri fejlődés genetikai hátterének megvilágítására. Ugyancsak több vizsgálat tárgyát képezték azok a jeltovábbító rendszerek (planar cell polarity jeltovábbító rendszer, sonic hedgehog jeltovábbító rendszer), amelyek alapvető szerepet játszanak az idegrendszeri fejlődés olyan folyamataiban, mint a velőlemez-képződés vagy a velőcsőzáródás. További említésre érdemes célterülete volt számos közzétett tanulmánynak a neurulatio különböző fázisait reguláló gének működésének, esetleges mutatióinak a vizsgálata. A velőcső-záródási rendellenességek kóreredetében szerepet játszó környezeti tényezők közül a legjelentősebbnek a folsav tűnik. Ennek megfelelően a folsavanyagcsere számos enzimje, illetve azokat kódoló gének esetleges hibája ugyancsak érdeklődésre számot tartó területnek számít. A szerző összefoglaló referátumában igyekezett áttekinteni a genetikai tényezők szerepét az idegrendszer fejlődése, valamint a velőcső-záródási rendellenességek kialakulása kapcsán.

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