Инд. авторы:	Вайнер А.С., Жечев Д.А., Кечин А.А., Кудрявцева Е.А., Гордеева Л.А., Воронина Е.Н., Шабалдин А.В., Филипенко М.Л.
Заглавие:	Метаболизм фолатов и врожденные аномалии развития
Библ. ссылка:	Вайнер А.С., Жечев Д.А., Кечин А.А., Кудрявцева Е.А., Гордеева Л.А., Воронина Е.Н., Шабалдин А.В., Филипенко М.Л. Метаболизм фолатов и врожденные аномалии развития // Мать и дитя в Кузбассе. - 2011. - № 2. - С.3-10. - ISSN 1991-010X.
Внешние системы:	РИНЦ: 16870395;
Реферат:	rus: Потребление фолиевой кислоты до зачатия и в ранние сроки беременности способно предотвращать ряд врожденных пороков развития - таких, как дефекты нервной трубки, пороки мочевыделительной и кровеносной системы, расщелины губы и неба и, вероятно, хромосомные болезни. Тем не менее, механизм протективного действия фолата до сих пор до конца не установлен. Также остается невыясненным, является ли дополнительное потребление фолиевой кислоты безопасным и эффективным для всех женщин, планирующих беременность, и какие группы населения имеют повышенный риск аномалий развития у потомства. Настоящая статья представляет собой обзор литературы, посвященный современному состоянию исследований о механизмах протективного действия фолиевой кислоты. Также в статье освещается состояние исследовательских работ, изучающих ассоциацию полиморфизма генов фолатного обмена с риском развития врожденных пороков. eng: Periconceptional use of folic acid is effective for the prevention of some types of congenital anomalies, such as neural tube defects, urinary tract defects, malformations of the circulatory system, orofacial clefts and probably chromosome diseases. But the mechanism by which folate exerts this protective effect remains elusive. It also remains unknown, whether folate supplementation is good for every woman preparing to be pregnant, and which groups of people have increased risk of congenital anomalies and need additional dietary folate. This review summarizes current research on the mechanisms and pathways by which folate influences the risk of certain malformations and also reports about current status of research works, studying the association of polymorphisms of folate metabolizing genes with this pathology.
Ключевые слова:	метилирование; фолиевая кислота; врожденные пороки развития; homocysteine; methylation; folic acid; congenital anomalies; polymorphisms; полиморфные варианты генов; гомоцистеин;
Издано:	2011
Физ. характеристика:	с.3-10
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