Gemma Simonetta, Vichi Susanna, Testai Emanuela
Environment and Primary Prevention Department, Mechanisms of Toxicity Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
Neurosci Biobehav Rev. 2007;31(2):221-9. doi: 10.1016/j.neubiorev.2006.06.018. Epub 2006 Sep 5.
Alcohol-related damages on newborns and infants include a wide variety of complications from facial anomalies to neurodevelopmental delay, known as fetal alcohol syndrome (FAS). However, only less than 10% of women drinking alcohol during pregnancy have children with FAS. Understanding the risk factors increasing the probability for newborn exposed in utero to alcohol to develop FAS is therefore a key issue. The involvement of genetics as a one risk factor in FAS has been suggested by animal models and by molecular epidemiological studies on different populations, bearing allelic variants for those enzymes, such as ADH e CYP2E1, involved in ethanol metabolism. Indeed, one of the major factors determining the peak blood alcohol exposure to the fetus is the metabolic activity of the mother, in addition to placental and fetal metabolism, explaining, at least partially, the risk of FAS. The different rates of ethanol metabolism may be the result of genetic polymorphisms, the most relevant of which have been described in the paper.
酒精对新生儿和婴儿造成的损害包括从面部畸形到神经发育迟缓等各种各样的并发症,即胎儿酒精综合征(FAS)。然而,孕期饮酒的女性中只有不到10%的人生下患有胎儿酒精综合征的孩子。因此,了解增加子宫内接触酒精的新生儿患胎儿酒精综合征可能性的风险因素是一个关键问题。动物模型以及针对不同人群的分子流行病学研究表明,遗传学作为胎儿酒精综合征的一个风险因素,与那些参与乙醇代谢的酶(如乙醇脱氢酶和细胞色素P450 2E1)的等位基因变异有关。事实上,除了胎盘和胎儿代谢外,决定胎儿血液酒精峰值暴露的主要因素之一是母亲的代谢活性,这至少部分解释了胎儿酒精综合征的风险。乙醇代谢率的差异可能是基因多态性的结果,本文描述了其中最相关的基因多态性。