Metabolic and genetic factors contributing to alcohol induced effects and fetal alcohol syndrome.
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.
Gemma
Simonetta
S
Environment and Primary Prevention Department, Mechanisms of Toxicity Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
Vichi
Susanna
S
Testai
Emanuela
E
D000818:Animals; D002492:Central Nervous System Depressants / Q000009:adverse effects*; D000431:Ethanol / Q000009:adverse effects*; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008297:Male; D053858:Metabolic Networks and Pathways / Q000187:drug effects* / Q000235:genetics*; D011247:Pregnancy
D002492:Central Nervous System Depressants; D000431:Ethanol